Canonical Allele Identifier: CA446302737

Gene: SLC12A2

Linked Data

• MyVariant Identifiers: chr5:g.127522254A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128186562A>C , CM000667.2:g.128186562A>C	GRCh38
NC_000005.9:g.127522254A>C , CM000667.1:g.127522254A>C	GRCh37
NC_000005.8:g.127550153A>C	NCBI36
NG_042286.1:g.107772A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262461.7:c.3570A>C MANE Select	ENSP00000262461.2:p.Leu1190=
ENST00000262461.6:c.3570A>C	ENSP00000262461.2:p.Leu1190=
ENST00000343225.4:c.3522A>C	ENSP00000340878.4:p.Leu1174=
ENST00000509205.5:c.*183A>C	ENSP00000427109.1:n.*183A>C
NM_001046.2:c.3570A>C	NP_001037.1:p.Leu1190=
NM_001256461.1:c.3522A>C	NP_001243390.1:p.Leu1174=
NR_046207.1:n.3800A>C
XM_017009771.1:c.1812A>C	XP_016865260.1:p.Leu604=
XR_001742214.1:n.3794A>C
NM_001046.3:c.3570A>C MANE Select	NP_001037.1:p.Leu1190=
NM_001256461.2:c.3522A>C	NP_001243390.1:p.Leu1174=
NR_046207.2:n.3825A>C