Canonical Allele Identifier: CA1581197560

Gene: SLC12A2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128186560C= , CM000667.2:g.128186560C=	GRCh38
NC_000005.9:g.127522252C= , CM000667.1:g.127522252C=	GRCh37
NC_000005.8:g.127550151C=	NCBI36
NG_042286.1:g.107770C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262461.7:c.3568C= MANE Select	ENSP00000262461.2:p.Leu1190=
ENST00000262461.6:c.3568C=	ENSP00000262461.2:p.Leu1190=
ENST00000343225.4:c.3520C=	ENSP00000340878.4:p.Leu1174=
ENST00000509205.5:c.*181C=	ENSP00000427109.1:n.*181C=
NM_001046.2:c.3568C=	NP_001037.1:p.Leu1190=
NM_001256461.1:c.3520C=	NP_001243390.1:p.Leu1174=
NR_046207.1:n.3798C=
XM_017009771.1:c.1810C=	XP_016865260.1:p.Leu604=
XR_001742214.1:n.3792C=
NM_001046.3:c.3568C= MANE Select	NP_001037.1:p.Leu1190=
NM_001256461.2:c.3520C=	NP_001243390.1:p.Leu1174=
NR_046207.2:n.3823C=