Canonical Allele Identifier: CA395944877

Gene: SLC6A2

Linked Data

• dbSNP Id: rs1198001440
• gnomAD v2: 16-55730224-T-A
• gnomAD v4: 16-55696312-T-A
• MyVariant Identifiers: chr16:g.55730224T>A (hg19) ; chr16:g.55696312T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.55696312T>A , CM000678.2:g.55696312T>A	GRCh38
NC_000016.9:g.55730224T>A , CM000678.1:g.55730224T>A	GRCh37
NC_000016.8:g.54287725T>A	NCBI36
NG_016969.1:g.45683T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219833.13:c.1235T>A	ENSP00000219833.8:p.Leu412His
ENST00000568943.6:c.1235T>A MANE Select	ENSP00000457473.1:p.Leu412His
ENST00000574918.2:c.1100T>A	ENSP00000460214.2:p.Leu367His
ENST00000682050.1:c.1012+910T>A	ENSP00000508367.1:n.1012+910T>A
ENST00000219833.12:c.1235T>A	ENSP00000219833.8:p.Leu412His
ENST00000379906.6:c.1235T>A	ENSP00000369237.2:p.Leu412His
ENST00000414754.7:c.1235T>A	ENSP00000394956.3:p.Leu412His
ENST00000561820.5:c.1235T>A	ENSP00000454439.1:p.Leu412His
ENST00000566163.5:c.1100T>A	ENSP00000456210.1:p.Leu367His
ENST00000567238.1:c.920T>A	ENSP00000457375.1:p.Leu307His
ENST00000568943.5:c.1235T>A	ENSP00000457473.1:p.Leu412His
NM_001043.3:c.1235T>A	NP_001034.1:p.Leu412His
NM_001172501.1:c.1235T>A	NP_001165972.1:p.Leu412His
NM_001172502.1:c.920T>A	NP_001165973.1:p.Leu307His
NM_001172504.1:c.1235T>A	NP_001165975.1:p.Leu412His
XM_006721263.2:c.1235T>A	XP_006721326.1:p.Leu412His
XM_011523295.1:c.1235T>A	XP_011521597.1:p.Leu412His
XM_011523296.1:c.1100T>A	XP_011521598.1:p.Leu367His
XM_011523297.1:c.1100T>A	XP_011521599.1:p.Leu367His
XM_011523298.1:c.1147+910T>A	XP_011521600.1:n.1147+910T>A
XM_011523299.1:c.512T>A	XP_011521601.1:p.Leu171His
XM_011523300.1:c.512T>A	XP_011521602.1:p.Leu171His
XR_933403.1:n.1852T>A
XM_011523295.2:c.1235T>A	XP_011521597.1:p.Leu412His
XM_011523296.2:c.1100T>A	XP_011521598.1:p.Leu367His
XM_011523297.3:c.1100T>A	XP_011521599.1:p.Leu367His
XM_011523298.2:c.1147+910T>A	XP_011521600.1:n.1147+910T>A
XM_011523299.2:c.512T>A	XP_011521601.1:p.Leu171His
XM_011523300.2:c.512T>A	XP_011521602.1:p.Leu171His
XR_933403.3:n.1528T>A
NM_001172501.2:c.1235T>A	NP_001165972.1:p.Leu412His
NM_001172501.3:c.1235T>A MANE Select	NP_001165972.1:p.Leu412His