Canonical Allele Identifier: CA360743044

Gene: SLC12A2

Linked Data

• MyVariant Identifiers: chr5:g.127522248A>T (hg19) ; chr5:g.128186556A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128186556A>T , CM000667.2:g.128186556A>T	GRCh38
NC_000005.9:g.127522248A>T , CM000667.1:g.127522248A>T	GRCh37
NC_000005.8:g.127550147A>T	NCBI36
NG_042286.1:g.107766A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262461.7:c.3564A>T MANE Select	ENSP00000262461.2:p.Glu1188Asp
ENST00000262461.6:c.3564A>T	ENSP00000262461.2:p.Glu1188Asp
ENST00000343225.4:c.3516A>T	ENSP00000340878.4:p.Glu1172Asp
ENST00000509205.5:c.*177A>T	ENSP00000427109.1:n.*177A>T
NM_001046.2:c.3564A>T	NP_001037.1:p.Glu1188Asp
NM_001256461.1:c.3516A>T	NP_001243390.1:p.Glu1172Asp
NR_046207.1:n.3794A>T
XM_017009771.1:c.1806A>T	XP_016865260.1:p.Glu602Asp
XR_001742214.1:n.3788A>T
NM_001046.3:c.3564A>T MANE Select	NP_001037.1:p.Glu1188Asp
NM_001256461.2:c.3516A>T	NP_001243390.1:p.Glu1172Asp
NR_046207.2:n.3819A>T