Canonical Allele Identifier: CA977567267

Gene: SLC6A2

Linked Data

• dbSNP Id: rs1964446352
• gnomAD v3: 16-55656327-G-A
• gnomAD v4: 16-55656327-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.55656327G>A , CM000678.2:g.55656327G>A	GRCh38
NC_000016.9:g.55690239G>A , CM000678.1:g.55690239G>A	GRCh37
NC_000016.8:g.54247740G>A	NCBI36
NG_016969.1:g.5698G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000219833.13:c.-368G>A	ENSP00000219833.8:n.-368G>A
ENST00000568943.6:c.-52+158G>A MANE Select	ENSP00000457473.1:n.-52+158G>A
ENST00000574918.2:c.-77G>A	ENSP00000460214.2:n.-77G>A
ENST00000682050.1:c.-77G>A	ENSP00000508367.1:n.-77G>A
ENST00000414754.7:c.-52+158G>A	ENSP00000394956.3:n.-52+158G>A
ENST00000568529.6:c.-52+158G>A	ENSP00000456377.2:n.-52+158G>A
ENST00000568655.5:c.-77G>A	ENSP00000454603.1:n.-77G>A
ENST00000568943.5:c.-52+158G>A	ENSP00000457473.1:n.-52+158G>A
NM_001172501.1:c.-52+158G>A	NP_001165972.1:n.-52+158G>A
XM_006721263.2:c.-77G>A	XP_006721326.1:n.-77G>A
XM_011523295.1:c.-52+158G>A	XP_011521597.1:n.-52+158G>A
XM_011523296.1:c.-52+158G>A	XP_011521598.1:n.-52+158G>A
XM_011523297.1:c.-52+158G>A	XP_011521599.1:n.-52+158G>A
XM_011523298.1:c.-52+158G>A	XP_011521600.1:n.-52+158G>A
XR_933403.1:n.566+158G>A
XM_011523295.2:c.-52+158G>A	XP_011521597.1:n.-52+158G>A
XM_011523296.2:c.-52+158G>A	XP_011521598.1:n.-52+158G>A
XM_011523297.3:c.-52+158G>A	XP_011521599.1:n.-52+158G>A
XM_011523298.2:c.-52+158G>A	XP_011521600.1:n.-52+158G>A
XR_933403.3:n.242+158G>A
NM_001172501.2:c.-52+158G>A	NP_001165972.1:n.-52+158G>A
NM_001172501.3:c.-52+158G>A MANE Select	NP_001165972.1:n.-52+158G>A