Canonical Allele Identifier: CA622294059

Gene: SLC6A2

Linked Data

• dbSNP Id: rs574877673
• gnomAD v2: 16-55703981-C-A
• gnomAD v3: 16-55670069-C-A
• gnomAD v4: 16-55670069-C-A
• MyVariant Identifiers: chr16:g.55703981C>A (hg19) ; chr16:g.55670069C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.55670069C>A , CM000678.2:g.55670069C>A	GRCh38
NC_000016.9:g.55703981C>A , CM000678.1:g.55703981C>A	GRCh37
NC_000016.8:g.54261482C>A	NCBI36
NG_016969.1:g.19440C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000219833.13:c.406+373C>A	ENSP00000219833.8:n.406+373C>A
ENST00000568943.6:c.406+373C>A MANE Select	ENSP00000457473.1:n.406+373C>A
ENST00000574918.2:c.406+373C>A	ENSP00000460214.2:n.406+373C>A
ENST00000682050.1:c.406+373C>A	ENSP00000508367.1:n.406+373C>A
ENST00000219833.12:c.406+373C>A	ENSP00000219833.8:n.406+373C>A
ENST00000379906.6:c.406+373C>A	ENSP00000369237.2:n.406+373C>A
ENST00000414754.7:c.406+373C>A	ENSP00000394956.3:n.406+373C>A
ENST00000561820.5:c.406+373C>A	ENSP00000454439.1:n.406+373C>A
ENST00000566163.5:c.406+373C>A	ENSP00000456210.1:n.406+373C>A
ENST00000568529.6:c.406+373C>A	ENSP00000456377.2:n.406+373C>A
ENST00000568655.5:c.406+373C>A	ENSP00000454603.1:n.406+373C>A
ENST00000568943.5:c.406+373C>A	ENSP00000457473.1:n.406+373C>A
NM_001043.3:c.406+373C>A	NP_001034.1:n.406+373C>A
NM_001172501.1:c.406+373C>A	NP_001165972.1:n.406+373C>A
NM_001172504.1:c.406+373C>A	NP_001165975.1:n.406+373C>A
XM_006721263.2:c.406+373C>A	XP_006721326.1:n.406+373C>A
XM_011523295.1:c.406+373C>A	XP_011521597.1:n.406+373C>A
XM_011523296.1:c.406+373C>A	XP_011521598.1:n.406+373C>A
XM_011523297.1:c.406+373C>A	XP_011521599.1:n.406+373C>A
XM_011523298.1:c.406+373C>A	XP_011521600.1:n.406+373C>A
XR_933403.1:n.1023+373C>A
XM_011523295.2:c.406+373C>A	XP_011521597.1:n.406+373C>A
XM_011523296.2:c.406+373C>A	XP_011521598.1:n.406+373C>A
XM_011523297.3:c.406+373C>A	XP_011521599.1:n.406+373C>A
XM_011523298.2:c.406+373C>A	XP_011521600.1:n.406+373C>A
XM_011523300.2:c.-1185C>A	XP_011521602.1:n.-1185C>A
XR_933403.3:n.699+373C>A
NM_001172501.2:c.406+373C>A	NP_001165972.1:n.406+373C>A
NM_001172501.3:c.406+373C>A MANE Select	NP_001165972.1:n.406+373C>A