Canonical Allele Identifier: CA3392827

Gene: SLC12A2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128084478G>C , CM000667.2:g.128084478G>C	GRCh38
NC_000005.9:g.127420170G>C , CM000667.1:g.127420170G>C	GRCh37
NC_000005.8:g.127448069G>C	NCBI36
NG_042286.1:g.5688G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001046.3:c.524G>C MANE Select	NP_001037.1:p.Gly175Ala
ENST00000262461.7:c.524G>C MANE Select	ENSP00000262461.2:p.Gly175Ala
NM_001046.2:c.524G>C	NP_001037.1:p.Gly175Ala
NM_001256461.1:c.524G>C	NP_001243390.1:p.Gly175Ala
NM_001256461.2:c.524G>C	NP_001243390.1:p.Gly175Ala
NR_046207.1:n.688G>C
NR_046207.2:n.713G>C
ENST00000262461.6:c.524G>C	ENSP00000262461.2:p.Gly175Ala
ENST00000343225.4:c.524G>C	ENSP00000340878.4:p.Gly175Ala
ENST00000509205.5:c.524G>C	ENSP00000427109.1:p.Gly175Ala
ENST00000628403.2:c.524G>C	ENSP00000486323.1:p.Gly175Ala
XM_011543588.1:c.524G>C	XP_011541890.1:p.Gly175Ala
XM_011543588.2:c.524G>C	XP_011541890.1:p.Gly175Ala
XR_001742214.1:n.682G>C