Canonical Allele Identifier: CA2223809527

Gene: SLC6A2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.55699651C= , CM000678.2:g.55699651C=	GRCh38
NC_000016.9:g.55733563C= , CM000678.1:g.55733563C=	GRCh37
NC_000016.8:g.54291064C=	NCBI36
NG_016969.1:g.49022C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219833.13:c.1587C=	ENSP00000219833.8:p.Leu529=
ENST00000568943.6:c.1587C= MANE Select	ENSP00000457473.1:p.Leu529=
ENST00000574918.2:c.1452C=	ENSP00000460214.2:p.Leu484=
ENST00000682050.1:c.*286C=	ENSP00000508367.1:n.*286C=
ENST00000219833.12:c.1587C=	ENSP00000219833.8:p.Leu529=
ENST00000379906.6:c.1587C=	ENSP00000369237.2:p.Leu529=
ENST00000414754.7:c.1587C=	ENSP00000394956.3:p.Leu529=
ENST00000561820.5:c.1587C=	ENSP00000454439.1:p.Leu529=
ENST00000566163.5:c.1452C=	ENSP00000456210.1:p.Leu484=
ENST00000567238.1:c.1272C=	ENSP00000457375.1:p.Leu424=
ENST00000568943.5:c.1587C=	ENSP00000457473.1:p.Leu529=
NM_001043.3:c.1587C=	NP_001034.1:p.Leu529=
NM_001172501.1:c.1587C=	NP_001165972.1:p.Leu529=
NM_001172502.1:c.1272C=	NP_001165973.1:p.Leu424=
NM_001172504.1:c.1587C=	NP_001165975.1:p.Leu529=
XM_006721263.2:c.1587C=	XP_006721326.1:p.Leu529=
XM_011523295.1:c.1587C=	XP_011521597.1:p.Leu529=
XM_011523296.1:c.1452C=	XP_011521598.1:p.Leu484=
XM_011523297.1:c.1452C=	XP_011521599.1:p.Leu484=
XM_011523299.1:c.864C=	XP_011521601.1:p.Leu288=
XM_011523300.1:c.864C=	XP_011521602.1:p.Leu288=
XR_933403.1:n.2107-488C=
XM_011523295.2:c.1587C=	XP_011521597.1:p.Leu529=
XM_011523296.2:c.1452C=	XP_011521598.1:p.Leu484=
XM_011523297.3:c.1452C=	XP_011521599.1:p.Leu484=
XM_011523299.2:c.864C=	XP_011521601.1:p.Leu288=
XM_011523300.2:c.864C=	XP_011521602.1:p.Leu288=
XR_933403.3:n.1783-488C=
NM_001172501.2:c.1587C=	NP_001165972.1:p.Leu529=
NM_001172501.3:c.1587C= MANE Select	NP_001165972.1:p.Leu529=