Canonical Allele Identifier: CA622292904

Gene: SLC6A2

Linked Data

• dbSNP Id: rs1175507119
• gnomAD v2: 16-55690144-C-A
• gnomAD v3: 16-55656232-C-A
• gnomAD v4: 16-55656232-C-A
• MyVariant Identifiers: chr16:g.55690144C>A (hg19) ; chr16:g.55656232C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.55656232C>A , CM000678.2:g.55656232C>A	GRCh38
NC_000016.9:g.55690144C>A , CM000678.1:g.55690144C>A	GRCh37
NC_000016.8:g.54247645C>A	NCBI36
NG_016969.1:g.5603C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000568943.6:c.-52+63C>A MANE Select	ENSP00000457473.1:n.-52+63C>A
ENST00000414754.7:c.-52+63C>A	ENSP00000394956.3:n.-52+63C>A
ENST00000568529.6:c.-52+63C>A	ENSP00000456377.2:n.-52+63C>A
ENST00000568943.5:c.-52+63C>A	ENSP00000457473.1:n.-52+63C>A
NM_001172501.1:c.-52+63C>A	NP_001165972.1:n.-52+63C>A
XM_011523295.1:c.-52+63C>A	XP_011521597.1:n.-52+63C>A
XM_011523296.1:c.-52+63C>A	XP_011521598.1:n.-52+63C>A
XM_011523297.1:c.-52+63C>A	XP_011521599.1:n.-52+63C>A
XM_011523298.1:c.-52+63C>A	XP_011521600.1:n.-52+63C>A
XR_933403.1:n.566+63C>A
XM_011523295.2:c.-52+63C>A	XP_011521597.1:n.-52+63C>A
XM_011523296.2:c.-52+63C>A	XP_011521598.1:n.-52+63C>A
XM_011523297.3:c.-52+63C>A	XP_011521599.1:n.-52+63C>A
XM_011523298.2:c.-52+63C>A	XP_011521600.1:n.-52+63C>A
XR_933403.3:n.242+63C>A
NM_001172501.2:c.-52+63C>A	NP_001165972.1:n.-52+63C>A
NM_001172501.3:c.-52+63C>A MANE Select	NP_001165972.1:n.-52+63C>A