Canonical Allele Identifier: CA721928072

Gene: SLC6A2

Linked Data

• dbSNP Id: rs546432049
• gnomAD v3: 16-55656431-C-T
• gnomAD v4: 16-55656431-C-T
• MyVariant Identifiers: chr16:g.55690343C>T (hg19) ; chr16:g.55656431C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.55656431C>T , CM000678.2:g.55656431C>T	GRCh38
NC_000016.9:g.55690343C>T , CM000678.1:g.55690343C>T	GRCh37
NC_000016.8:g.54247844C>T	NCBI36
NG_016969.1:g.5802C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000219833.13:c.-264C>T	ENSP00000219833.8:n.-264C>T
ENST00000568943.6:c.-51-213C>T MANE Select	ENSP00000457473.1:n.-51-213C>T
ENST00000574918.2:c.-52+79C>T	ENSP00000460214.2:n.-52+79C>T
ENST00000682050.1:c.-52+79C>T	ENSP00000508367.1:n.-52+79C>T
ENST00000414754.7:c.-51-213C>T	ENSP00000394956.3:n.-51-213C>T
ENST00000568529.6:c.-51-213C>T	ENSP00000456377.2:n.-51-213C>T
ENST00000568655.5:c.-52+79C>T	ENSP00000454603.1:n.-52+79C>T
ENST00000568943.5:c.-51-213C>T	ENSP00000457473.1:n.-51-213C>T
NM_001172501.1:c.-51-213C>T	NP_001165972.1:n.-51-213C>T
XM_006721263.2:c.-52+79C>T	XP_006721326.1:n.-52+79C>T
XM_011523295.1:c.-51-213C>T	XP_011521597.1:n.-51-213C>T
XM_011523296.1:c.-51-213C>T	XP_011521598.1:n.-51-213C>T
XM_011523297.1:c.-51-213C>T	XP_011521599.1:n.-51-213C>T
XM_011523298.1:c.-51-213C>T	XP_011521600.1:n.-51-213C>T
XR_933403.1:n.567-213C>T
XM_011523295.2:c.-51-213C>T	XP_011521597.1:n.-51-213C>T
XM_011523296.2:c.-51-213C>T	XP_011521598.1:n.-51-213C>T
XM_011523297.3:c.-51-213C>T	XP_011521599.1:n.-51-213C>T
XM_011523298.2:c.-51-213C>T	XP_011521600.1:n.-51-213C>T
XR_933403.3:n.243-213C>T
NM_001172501.2:c.-51-213C>T	NP_001165972.1:n.-51-213C>T
NM_001172501.3:c.-51-213C>T MANE Select	NP_001165972.1:n.-51-213C>T