Canonical Allele Identifier: CA1581197575

Gene: SLC12A2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128186566A= , CM000667.2:g.128186566A=	GRCh38
NC_000005.9:g.127522258A= , CM000667.1:g.127522258A=	GRCh37
NC_000005.8:g.127550157A=	NCBI36
NG_042286.1:g.107776A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262461.7:c.3574A= MANE Select	ENSP00000262461.2:p.Lys1192=
ENST00000262461.6:c.3574A=	ENSP00000262461.2:p.Lys1192=
ENST00000343225.4:c.3526A=	ENSP00000340878.4:p.Lys1176=
ENST00000509205.5:c.*187A=	ENSP00000427109.1:n.*187A=
NM_001046.2:c.3574A=	NP_001037.1:p.Lys1192=
NM_001256461.1:c.3526A=	NP_001243390.1:p.Lys1176=
NR_046207.1:n.3804A=
XM_017009771.1:c.1816A=	XP_016865260.1:p.Lys606=
XR_001742214.1:n.3798A=
NM_001046.3:c.3574A= MANE Select	NP_001037.1:p.Lys1192=
NM_001256461.2:c.3526A=	NP_001243390.1:p.Lys1176=
NR_046207.2:n.3829A=