Canonical Allele Identifier: CA1581197584

Gene: SLC12A2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128186573T= , CM000667.2:g.128186573T=	GRCh38
NC_000005.9:g.127522265T= , CM000667.1:g.127522265T=	GRCh37
NC_000005.8:g.127550164T=	NCBI36
NG_042286.1:g.107783T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262461.7:c.3581T= MANE Select	ENSP00000262461.2:p.Leu1194=
ENST00000262461.6:c.3581T=	ENSP00000262461.2:p.Leu1194=
ENST00000343225.4:c.3533T=	ENSP00000340878.4:p.Leu1178=
ENST00000509205.5:c.*194T=	ENSP00000427109.1:n.*194T=
NM_001046.2:c.3581T=	NP_001037.1:p.Leu1194=
NM_001256461.1:c.3533T=	NP_001243390.1:p.Leu1178=
NR_046207.1:n.3811T=
XM_017009771.1:c.1823T=	XP_016865260.1:p.Leu608=
XR_001742214.1:n.3805T=
NM_001046.3:c.3581T= MANE Select	NP_001037.1:p.Leu1194=
NM_001256461.2:c.3533T=	NP_001243390.1:p.Leu1178=
NR_046207.2:n.3836T=