Canonical Allele Identifier: CA2633287448

Gene: SLC6A2

Linked Data

• gnomAD v4: 16-55656251-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.55656251T>C , CM000678.2:g.55656251T>C	GRCh38
NC_000016.9:g.55690163T>C , CM000678.1:g.55690163T>C	GRCh37
NC_000016.8:g.54247664T>C	NCBI36
NG_016969.1:g.5622T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000568943.6:c.-52+82T>C MANE Select	ENSP00000457473.1:n.-52+82T>C
ENST00000414754.7:c.-52+82T>C	ENSP00000394956.3:n.-52+82T>C
ENST00000568529.6:c.-52+82T>C	ENSP00000456377.2:n.-52+82T>C
ENST00000568943.5:c.-52+82T>C	ENSP00000457473.1:n.-52+82T>C
NM_001172501.1:c.-52+82T>C	NP_001165972.1:n.-52+82T>C
XM_011523295.1:c.-52+82T>C	XP_011521597.1:n.-52+82T>C
XM_011523296.1:c.-52+82T>C	XP_011521598.1:n.-52+82T>C
XM_011523297.1:c.-52+82T>C	XP_011521599.1:n.-52+82T>C
XM_011523298.1:c.-52+82T>C	XP_011521600.1:n.-52+82T>C
XR_933403.1:n.566+82T>C
XM_011523295.2:c.-52+82T>C	XP_011521597.1:n.-52+82T>C
XM_011523296.2:c.-52+82T>C	XP_011521598.1:n.-52+82T>C
XM_011523297.3:c.-52+82T>C	XP_011521599.1:n.-52+82T>C
XM_011523298.2:c.-52+82T>C	XP_011521600.1:n.-52+82T>C
XR_933403.3:n.242+82T>C
NM_001172501.2:c.-52+82T>C	NP_001165972.1:n.-52+82T>C
NM_001172501.3:c.-52+82T>C MANE Select	NP_001165972.1:n.-52+82T>C