Canonical Allele Identifier: CA1581197543

Gene: SLC12A2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128186545G= , CM000667.2:g.128186545G=	GRCh38
NC_000005.9:g.127522237G= , CM000667.1:g.127522237G=	GRCh37
NC_000005.8:g.127550136G=	NCBI36
NG_042286.1:g.107755G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262461.7:c.3553G= MANE Select	ENSP00000262461.2:p.Ala1185=
ENST00000262461.6:c.3553G=	ENSP00000262461.2:p.Ala1185=
ENST00000343225.4:c.3505G=	ENSP00000340878.4:p.Ala1169=
ENST00000509205.5:c.*166G=	ENSP00000427109.1:n.*166G=
NM_001046.2:c.3553G=	NP_001037.1:p.Ala1185=
NM_001256461.1:c.3505G=	NP_001243390.1:p.Ala1169=
NR_046207.1:n.3783G=
XM_017009771.1:c.1795G=	XP_016865260.1:p.Ala599=
XR_001742214.1:n.3777G=
NM_001046.3:c.3553G= MANE Select	NP_001037.1:p.Ala1185=
NM_001256461.2:c.3505G=	NP_001243390.1:p.Ala1169=
NR_046207.2:n.3808G=