Canonical Allele Identifier: CA8061808

Gene: SLC6A2

Linked Data

• dbSNP Id: rs773988656
• ExAC: 16:55733572 T / TC
• gnomAD v2: 16-55733572-T-TC
• gnomAD v4: 16-55699660-T-TC
• MyVariant Identifiers: chr16:g.55733572_55733573insC (hg19) ; chr16:g.55699660_55699661insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.55699660_55699661insC , CM000678.2:g.55699660_55699661insC	GRCh38
NC_000016.9:g.55733572_55733573insC , CM000678.1:g.55733572_55733573insC	GRCh37
NC_000016.8:g.54291073_54291074insC	NCBI36
NG_016969.1:g.49031_49032insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219833.13:c.1590+6_1590+7insC	ENSP00000219833.8:n.1590+6_1590+7insC
ENST00000568943.6:c.1590+6_1590+7insC MANE Select	ENSP00000457473.1:n.1590+6_1590+7insC
ENST00000574918.2:c.1455+6_1455+7insC	ENSP00000460214.2:n.1455+6_1455+7insC
ENST00000682050.1:c.*289+6_*289+7insC	ENSP00000508367.1:n.*289+6_*289+7insC
ENST00000219833.12:c.1590+6_1590+7insC	ENSP00000219833.8:n.1590+6_1590+7insC
ENST00000379906.6:c.1590+6_1590+7insC	ENSP00000369237.2:n.1590+6_1590+7insC
ENST00000414754.7:c.1590+6_1590+7insC	ENSP00000394956.3:n.1590+6_1590+7insC
ENST00000561820.5:c.1590+6_1590+7insC	ENSP00000454439.1:n.1590+6_1590+7insC
ENST00000566163.5:c.1455+6_1455+7insC	ENSP00000456210.1:n.1455+6_1455+7insC
ENST00000567238.1:c.1275+6_1275+7insC	ENSP00000457375.1:n.1275+6_1275+7insC
ENST00000568943.5:c.1590+6_1590+7insC	ENSP00000457473.1:n.1590+6_1590+7insC
NM_001043.3:c.1590+6_1590+7insC	NP_001034.1:n.1590+6_1590+7insC
NM_001172501.1:c.1590+6_1590+7insC	NP_001165972.1:n.1590+6_1590+7insC
NM_001172502.1:c.1275+6_1275+7insC	NP_001165973.1:n.1275+6_1275+7insC
NM_001172504.1:c.1590+6_1590+7insC	NP_001165975.1:n.1590+6_1590+7insC
XM_006721263.2:c.1590+6_1590+7insC	XP_006721326.1:n.1590+6_1590+7insC
XM_011523295.1:c.1590+6_1590+7insC	XP_011521597.1:n.1590+6_1590+7insC
XM_011523296.1:c.1455+6_1455+7insC	XP_011521598.1:n.1455+6_1455+7insC
XM_011523297.1:c.1455+6_1455+7insC	XP_011521599.1:n.1455+6_1455+7insC
XM_011523299.1:c.867+6_867+7insC	XP_011521601.1:n.867+6_867+7insC
XM_011523300.1:c.867+6_867+7insC	XP_011521602.1:n.867+6_867+7insC
XR_933403.1:n.2107-479_2107-478insC
XM_011523295.2:c.1590+6_1590+7insC	XP_011521597.1:n.1590+6_1590+7insC
XM_011523296.2:c.1455+6_1455+7insC	XP_011521598.1:n.1455+6_1455+7insC
XM_011523297.3:c.1455+6_1455+7insC	XP_011521599.1:n.1455+6_1455+7insC
XM_011523299.2:c.867+6_867+7insC	XP_011521601.1:n.867+6_867+7insC
XM_011523300.2:c.867+6_867+7insC	XP_011521602.1:n.867+6_867+7insC
XR_933403.3:n.1783-479_1783-478insC
NM_001172501.2:c.1590+6_1590+7insC	NP_001165972.1:n.1590+6_1590+7insC
NM_001172501.3:c.1590+6_1590+7insC MANE Select	NP_001165972.1:n.1590+6_1590+7insC