Canonical Allele Identifier: CA446302761

Gene: SLC12A2

Linked Data

• MyVariant Identifiers: chr5:g.127522281A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128186589A>C , CM000667.2:g.128186589A>C	GRCh38
NC_000005.9:g.127522281A>C , CM000667.1:g.127522281A>C	GRCh37
NC_000005.8:g.127550180A>C	NCBI36
NG_042286.1:g.107799A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262461.7:c.3597A>C MANE Select	ENSP00000262461.2:p.Leu1199=
ENST00000262461.6:c.3597A>C	ENSP00000262461.2:p.Leu1199=
ENST00000343225.4:c.3549A>C	ENSP00000340878.4:p.Leu1183=
ENST00000509205.5:c.*210A>C	ENSP00000427109.1:n.*210A>C
NM_001046.2:c.3597A>C	NP_001037.1:p.Leu1199=
NM_001256461.1:c.3549A>C	NP_001243390.1:p.Leu1183=
NR_046207.1:n.3827A>C
XM_017009771.1:c.1839A>C	XP_016865260.1:p.Leu613=
XR_001742214.1:n.3821A>C
NM_001046.3:c.3597A>C MANE Select	NP_001037.1:p.Leu1199=
NM_001256461.2:c.3549A>C	NP_001243390.1:p.Leu1183=
NR_046207.2:n.3852A>C