Canonical Allele Identifier: CA8061696

Gene: SLC6A2

Linked Data

• ClinVar Variation Id: 2646539
• ClinVar RCV Id: RCV003426710
• dbSNP Id: rs779214226
• ExAC: 16:55730217 G / A
• gnomAD v2: 16-55730217-G-A
• gnomAD v3: 16-55696305-G-A
• gnomAD v4: 16-55696305-G-A
• MyVariant Identifiers: chr16:g.55730217G>A (hg19) ; chr16:g.55696305G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.55696305G>A , CM000678.2:g.55696305G>A	GRCh38
NC_000016.9:g.55730217G>A , CM000678.1:g.55730217G>A	GRCh37
NC_000016.8:g.54287718G>A	NCBI36
NG_016969.1:g.45676G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219833.13:c.1228G>A	ENSP00000219833.8:p.Val410Ile
ENST00000568943.6:c.1228G>A MANE Select	ENSP00000457473.1:p.Val410Ile
ENST00000574918.2:c.1093G>A	ENSP00000460214.2:p.Val365Ile
ENST00000682050.1:c.1012+903G>A	ENSP00000508367.1:n.1012+903G>A
ENST00000219833.12:c.1228G>A	ENSP00000219833.8:p.Val410Ile
ENST00000379906.6:c.1228G>A	ENSP00000369237.2:p.Val410Ile
ENST00000414754.7:c.1228G>A	ENSP00000394956.3:p.Val410Ile
ENST00000561820.5:c.1228G>A	ENSP00000454439.1:p.Val410Ile
ENST00000566163.5:c.1093G>A	ENSP00000456210.1:p.Val365Ile
ENST00000567238.1:c.913G>A	ENSP00000457375.1:p.Val305Ile
ENST00000568943.5:c.1228G>A	ENSP00000457473.1:p.Val410Ile
NM_001043.3:c.1228G>A	NP_001034.1:p.Val410Ile
NM_001172501.1:c.1228G>A	NP_001165972.1:p.Val410Ile
NM_001172502.1:c.913G>A	NP_001165973.1:p.Val305Ile
NM_001172504.1:c.1228G>A	NP_001165975.1:p.Val410Ile
XM_006721263.2:c.1228G>A	XP_006721326.1:p.Val410Ile
XM_011523295.1:c.1228G>A	XP_011521597.1:p.Val410Ile
XM_011523296.1:c.1093G>A	XP_011521598.1:p.Val365Ile
XM_011523297.1:c.1093G>A	XP_011521599.1:p.Val365Ile
XM_011523298.1:c.1147+903G>A	XP_011521600.1:n.1147+903G>A
XM_011523299.1:c.505G>A	XP_011521601.1:p.Val169Ile
XM_011523300.1:c.505G>A	XP_011521602.1:p.Val169Ile
XR_933403.1:n.1845G>A
XM_011523295.2:c.1228G>A	XP_011521597.1:p.Val410Ile
XM_011523296.2:c.1093G>A	XP_011521598.1:p.Val365Ile
XM_011523297.3:c.1093G>A	XP_011521599.1:p.Val365Ile
XM_011523298.2:c.1147+903G>A	XP_011521600.1:n.1147+903G>A
XM_011523299.2:c.505G>A	XP_011521601.1:p.Val169Ile
XM_011523300.2:c.505G>A	XP_011521602.1:p.Val169Ile
XR_933403.3:n.1521G>A
NM_001172501.2:c.1228G>A	NP_001165972.1:p.Val410Ile
NM_001172501.3:c.1228G>A MANE Select	NP_001165972.1:p.Val410Ile