All transcript variants in gene SPTLC2

Information The variants shown are described using the NM_004863.3 transcript reference sequence.

43 entries on 1 page. Showing entries 1 - 43.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg38)     

Reference     

DB-ID     

Frequency     

Owner     
./. - c.132+1323T>G r.(=) p.(=) g.77615125A>C dbSNP SPTLC2_000043 0.947 Admin
./. - c.132+4586T>C - - g.77611862A>G dbSNP SPTLC2_000042 0.515 Admin
./. - c.133-5128T>G - - g.77602508A>C dbSNP SPTLC2_000041 0.879 Admin
./. - c.133-3577T>A r.(=) p.(=) g.77600957A>T dbSNP SPTLC2_000040 0.629 Admin
./. - c.133-3431T>C - - g.77600811A>G dbSNP SPTLC2_000039 0.127 Admin
./. - c.133-2937T>C r.(=) p.(=) g.77600317A>G dbSNP SPTLC2_000038 0.703 Admin
./. - c.133-2661G>A - - g.77600041C>T dbSNP SPTLC2_000037 0.108 Admin
./. - c.133-2085G>C r.(=) p.(=) g.77599465C>G dbSNP SPTLC2_000036 0.614 Admin
./. - c.133-1815T>A r.(=) p.(=) g.77599195A>T dbSNP SPTLC2_000035 0.104 Admin
./. - c.133-1676T>C - - g.77599056A>G dbSNP SPTLC2_000034 0.496 Admin
./. - c.133-1255G>A - - g.77598635C>T dbSNP SPTLC2_000033 0.634 Admin
./. - c.327+2521T>C - - g.77594665A>G dbSNP SPTLC2_000032 0.116 Admin
./. - c.327+5695T>G - - g.77591491A>C dbSNP SPTLC2_000031 0.669 Admin
./. - c.327+6325T>C r.(=) p.(=) g.77590861A>G dbSNP SPTLC2_000030 0.847 Admin
./. - c.327+7877T>C - - g.77589309A>G dbSNP SPTLC2_000029 0.873 Admin
./. - c.328-5218G>A - - g.77584327C>T dbSNP SPTLC2_000028 0.080 Admin
./. - c.328-4415T>C - - g.77583524A>G dbSNP SPTLC2_000027 0.860 Admin
./. - c.328-4281G>A - - g.77583390C>T dbSNP SPTLC2_000026 0.441 Admin
./. - c.328-3262G>A - - g.77582371C>T dbSNP SPTLC2_000025 0.023 Admin
./. - c.483-670G>A - - g.77577585C>T dbSNP SPTLC2_000024 0.945 Admin
./. - c.632-1057G>A r.(=) p.(=) g.77571565C>T dbSNP SPTLC2_000023 0.578 Admin
./. - c.756+1109G>A - - g.77569275C>T dbSNP SPTLC2_000022 0.578 Admin
./. - c.756+1336T>A r.(=) p.(=) g.77569048A>T dbSNP SPTLC2_000021 0.426 Admin
./. - c.757-1646G>C - - g.77564135C>G dbSNP SPTLC2_000020 0.919 Admin
./. - c.850+338T>G - - g.77562058A>C dbSNP SPTLC2_000019 0.508 Admin
./. - c.850+362T>C r.(=) p.(=) g.77562034A>G dbSNP SPTLC2_000018 0.788 Admin
./. - c.851-1436G>A - - g.77558582C>T dbSNP SPTLC2_000017 0.239 Admin
./. - c.1176+377G>C - - g.77554923C>G dbSNP SPTLC2_000016 0.576 Admin
./. - c.1303+2169T>C r.(=) p.(=) g.77549927A>G dbSNP SPTLC2_000015 0.267 Admin
./. - c.1303+2543T>C - - g.77549553A>G dbSNP SPTLC2_000014 0.797 Admin
./. - c.1303+3594G>A - - g.77548502C>T dbSNP SPTLC2_000013 0.938 Admin
./. - c.1303+6446T>C - - g.77545650A>G dbSNP SPTLC2_000012 0.860 Admin
./. - c.1303+6842T>A - - g.77545254A>T dbSNP SPTLC2_000011 0.066 Admin
./. - c.1303+11275C>A - - g.77540821G>T dbSNP SPTLC2_000010 0.839 Admin
./. - c.1303+14244G>A - - g.77537852C>T dbSNP SPTLC2_000009 0.947 Admin
./. - c.1304-3335T>C r.(=) p.(=) g.77524916A>G dbSNP SPTLC2_000008 0.216 Admin
./. - c.1304-723G>A - - g.77522304C>T dbSNP SPTLC2_000007 0.248 Admin
./. - c.*2178C>A r.(=) p.(=) g.77510106G>T dbSNP SPTLC2_000006 0.873 Admin
./. - c.*2303G>A - - g.77509981C>T dbSNP SPTLC2_000005 0.242 Admin
./. - c.*2703T>C - - g.77509581A>G dbSNP SPTLC2_000004 0.890 Admin
./. - c.*3638G>A - - g.77508646C>T dbSNP SPTLC2_000003 0.756 Admin
./. - c.*5359G>A r.(=) p.(=) g.77506925C>T dbSNP SPTLC2_000002 0.973 Admin
./. - c.*5532G>A - - g.77506752C>T dbSNP SPTLC2_000001 0.943 Admin
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