Canonical Allele Identifier: CA8061724

Gene: SLC6A2

Linked Data

• dbSNP Id: rs5569
• ExAC: 16:55731835 G / C
• gnomAD v2: 16-55731835-G-C
• MyVariant Identifiers: chr16:g.55731835G>C (hg19) ; chr16:g.55697923G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.55697923G>C , CM000678.2:g.55697923G>C	GRCh38
NC_000016.9:g.55731835G>C , CM000678.1:g.55731835G>C	GRCh37
NC_000016.8:g.54289336G>C	NCBI36
NG_016969.1:g.47294G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000219833.13:c.1287G>C	ENSP00000219833.8:p.Thr429=
ENST00000568943.6:c.1287G>C MANE Select	ENSP00000457473.1:p.Thr429=
ENST00000574918.2:c.1152G>C	ENSP00000460214.2:p.Thr384=
ENST00000682050.1:c.1039G>C	ENSP00000508367.1:p.Gly347Arg
ENST00000219833.12:c.1287G>C	ENSP00000219833.8:p.Thr429=
ENST00000379906.6:c.1287G>C	ENSP00000369237.2:p.Thr429=
ENST00000414754.7:c.1287G>C	ENSP00000394956.3:p.Thr429=
ENST00000561820.5:c.1287G>C	ENSP00000454439.1:p.Thr429=
ENST00000566163.5:c.1152G>C	ENSP00000456210.1:p.Thr384=
ENST00000567238.1:c.972G>C	ENSP00000457375.1:p.Thr324=
ENST00000568943.5:c.1287G>C	ENSP00000457473.1:p.Thr429=
NM_001043.3:c.1287G>C	NP_001034.1:p.Thr429=
NM_001172501.1:c.1287G>C	NP_001165972.1:p.Thr429=
NM_001172502.1:c.972G>C	NP_001165973.1:p.Thr324=
NM_001172504.1:c.1287G>C	NP_001165975.1:p.Thr429=
XM_006721263.2:c.1287G>C	XP_006721326.1:p.Thr429=
XM_011523295.1:c.1287G>C	XP_011521597.1:p.Thr429=
XM_011523296.1:c.1152G>C	XP_011521598.1:p.Thr384=
XM_011523297.1:c.1152G>C	XP_011521599.1:p.Thr384=
XM_011523298.1:c.1174G>C	XP_011521600.1:p.Gly392Arg
XM_011523299.1:c.564G>C	XP_011521601.1:p.Thr188=
XM_011523300.1:c.564G>C	XP_011521602.1:p.Thr188=
XR_933403.1:n.1904G>C
XM_011523295.2:c.1287G>C	XP_011521597.1:p.Thr429=
XM_011523296.2:c.1152G>C	XP_011521598.1:p.Thr384=
XM_011523297.3:c.1152G>C	XP_011521599.1:p.Thr384=
XM_011523298.2:c.1174G>C	XP_011521600.1:p.Gly392Arg
XM_011523299.2:c.564G>C	XP_011521601.1:p.Thr188=
XM_011523300.2:c.564G>C	XP_011521602.1:p.Thr188=
XR_933403.3:n.1580G>C
NM_001172501.2:c.1287G>C	NP_001165972.1:p.Thr429=
NM_001172501.3:c.1287G>C MANE Select	NP_001165972.1:p.Thr429=