Canonical Allele Identifier: CA281436921

Gene: SLC6A2

Linked Data

• dbSNP Id: rs897497384
• gnomAD v3: 16-55656242-G-C
• gnomAD v4: 16-55656242-G-C
• MyVariant Identifiers: chr16:g.55690154G>C (hg19) ; chr16:g.55656242G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.55656242G>C , CM000678.2:g.55656242G>C	GRCh38
NC_000016.9:g.55690154G>C , CM000678.1:g.55690154G>C	GRCh37
NC_000016.8:g.54247655G>C	NCBI36
NG_016969.1:g.5613G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000568943.6:c.-52+73G>C MANE Select	ENSP00000457473.1:n.-52+73G>C
ENST00000414754.7:c.-52+73G>C	ENSP00000394956.3:n.-52+73G>C
ENST00000568529.6:c.-52+73G>C	ENSP00000456377.2:n.-52+73G>C
ENST00000568943.5:c.-52+73G>C	ENSP00000457473.1:n.-52+73G>C
NM_001172501.1:c.-52+73G>C	NP_001165972.1:n.-52+73G>C
XM_011523295.1:c.-52+73G>C	XP_011521597.1:n.-52+73G>C
XM_011523296.1:c.-52+73G>C	XP_011521598.1:n.-52+73G>C
XM_011523297.1:c.-52+73G>C	XP_011521599.1:n.-52+73G>C
XM_011523298.1:c.-52+73G>C	XP_011521600.1:n.-52+73G>C
XR_933403.1:n.566+73G>C
XM_011523295.2:c.-52+73G>C	XP_011521597.1:n.-52+73G>C
XM_011523296.2:c.-52+73G>C	XP_011521598.1:n.-52+73G>C
XM_011523297.3:c.-52+73G>C	XP_011521599.1:n.-52+73G>C
XM_011523298.2:c.-52+73G>C	XP_011521600.1:n.-52+73G>C
XR_933403.3:n.242+73G>C
NM_001172501.2:c.-52+73G>C	NP_001165972.1:n.-52+73G>C
NM_001172501.3:c.-52+73G>C MANE Select	NP_001165972.1:n.-52+73G>C