Canonical Allele Identifier: CA2836696549
Gene: SLC6A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.55670121G>T , CM000678.2:g.55670121G>T GRCh38
NC_000016.9:g.55704033G>T , CM000678.1:g.55704033G>T GRCh37
NC_000016.8:g.54261534G>T NCBI36
NG_016969.1:g.19492G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000219833.13:c.406+425G>T ENSP00000219833.8:n.406+425G>T
ENST00000568943.6:c.406+425G>T MANE Select ENSP00000457473.1:n.406+425G>T
ENST00000574918.2:c.406+425G>T ENSP00000460214.2:n.406+425G>T
ENST00000682050.1:c.406+425G>T ENSP00000508367.1:n.406+425G>T
ENST00000219833.12:c.406+425G>T ENSP00000219833.8:n.406+425G>T
ENST00000379906.6:c.406+425G>T ENSP00000369237.2:n.406+425G>T
ENST00000414754.7:c.406+425G>T ENSP00000394956.3:n.406+425G>T
ENST00000561820.5:c.406+425G>T ENSP00000454439.1:n.406+425G>T
ENST00000566163.5:c.406+425G>T ENSP00000456210.1:n.406+425G>T
ENST00000568529.6:c.406+425G>T ENSP00000456377.2:n.406+425G>T
ENST00000568655.5:c.406+425G>T ENSP00000454603.1:n.406+425G>T
ENST00000568943.5:c.406+425G>T ENSP00000457473.1:n.406+425G>T
NM_001043.3:c.406+425G>T NP_001034.1:n.406+425G>T
NM_001172501.1:c.406+425G>T NP_001165972.1:n.406+425G>T
NM_001172504.1:c.406+425G>T NP_001165975.1:n.406+425G>T
XM_006721263.2:c.406+425G>T XP_006721326.1:n.406+425G>T
XM_011523295.1:c.406+425G>T XP_011521597.1:n.406+425G>T
XM_011523296.1:c.406+425G>T XP_011521598.1:n.406+425G>T
XM_011523297.1:c.406+425G>T XP_011521599.1:n.406+425G>T
XM_011523298.1:c.406+425G>T XP_011521600.1:n.406+425G>T
XR_933403.1:n.1023+425G>T
XM_011523295.2:c.406+425G>T XP_011521597.1:n.406+425G>T
XM_011523296.2:c.406+425G>T XP_011521598.1:n.406+425G>T
XM_011523297.3:c.406+425G>T XP_011521599.1:n.406+425G>T
XM_011523298.2:c.406+425G>T XP_011521600.1:n.406+425G>T
XM_011523300.2:c.-1133G>T XP_011521602.1:n.-1133G>T
XR_933403.3:n.699+425G>T
NM_001172501.2:c.406+425G>T NP_001165972.1:n.406+425G>T
NM_001172501.3:c.406+425G>T MANE Select NP_001165972.1:n.406+425G>T