Canonical Allele Identifier: CA8061582

Gene: SLC6A2

Linked Data

• ClinVar Variation Id: 319797
• ClinVar RCV Id: RCV000887054
• dbSNP Id: rs45564432
• ExAC: 16:55725894 C / G
• gnomAD v2: 16-55725894-C-G
• gnomAD v3: 16-55691982-C-G
• gnomAD v4: 16-55691982-C-G
• MyVariant Identifiers: chr16:g.55725894C>G (hg19) ; chr16:g.55691982C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.55691982C>G , CM000678.2:g.55691982C>G	GRCh38
NC_000016.9:g.55725894C>G , CM000678.1:g.55725894C>G	GRCh37
NC_000016.8:g.54283395C>G	NCBI36
NG_016969.1:g.41353C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219833.13:c.848C>G	ENSP00000219833.8:p.Thr283Arg
ENST00000568943.6:c.848C>G MANE Select	ENSP00000457473.1:p.Thr283Arg
ENST00000574918.2:c.784-2028C>G	ENSP00000460214.2:n.784-2028C>G
ENST00000682050.1:c.784-2028C>G	ENSP00000508367.1:n.784-2028C>G
ENST00000219833.12:c.848C>G	ENSP00000219833.8:p.Thr283Arg
ENST00000379906.6:c.848C>G	ENSP00000369237.2:p.Thr283Arg
ENST00000414754.7:c.848C>G	ENSP00000394956.3:p.Thr283Arg
ENST00000561820.5:c.848C>G	ENSP00000454439.1:p.Thr283Arg
ENST00000566163.5:c.784-2028C>G	ENSP00000456210.1:n.784-2028C>G
ENST00000567238.1:c.533C>G	ENSP00000457375.1:p.Thr178Arg
ENST00000568529.6:c.784-2028C>G	ENSP00000456377.2:n.784-2028C>G
ENST00000568943.5:c.848C>G	ENSP00000457473.1:p.Thr283Arg
NM_001043.3:c.848C>G	NP_001034.1:p.Thr283Arg
NM_001172501.1:c.848C>G	NP_001165972.1:p.Thr283Arg
NM_001172502.1:c.533C>G	NP_001165973.1:p.Thr178Arg
NM_001172504.1:c.848C>G	NP_001165975.1:p.Thr283Arg
XM_006721263.2:c.848C>G	XP_006721326.1:p.Thr283Arg
XM_011523295.1:c.848C>G	XP_011521597.1:p.Thr283Arg
XM_011523296.1:c.784-2028C>G	XP_011521598.1:n.784-2028C>G
XM_011523297.1:c.784-2028C>G	XP_011521599.1:n.784-2028C>G
XM_011523298.1:c.848C>G	XP_011521600.1:p.Thr283Arg
XM_011523299.1:c.125C>G	XP_011521601.1:p.Thr42Arg
XM_011523300.1:c.125C>G	XP_011521602.1:p.Thr42Arg
XR_933403.1:n.1465C>G
XM_011523295.2:c.848C>G	XP_011521597.1:p.Thr283Arg
XM_011523296.2:c.784-2028C>G	XP_011521598.1:n.784-2028C>G
XM_011523297.3:c.784-2028C>G	XP_011521599.1:n.784-2028C>G
XM_011523298.2:c.848C>G	XP_011521600.1:p.Thr283Arg
XM_011523299.2:c.125C>G	XP_011521601.1:p.Thr42Arg
XM_011523300.2:c.125C>G	XP_011521602.1:p.Thr42Arg
XR_933403.3:n.1141C>G
NM_001172501.2:c.848C>G	NP_001165972.1:p.Thr283Arg
NM_001172501.3:c.848C>G MANE Select	NP_001165972.1:p.Thr283Arg