Canonical Allele Identifier: CA2675110058

Gene: SLC12A2

Linked Data

• gnomAD v4: 5-128186768-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128186768C>A , CM000667.2:g.128186768C>A	GRCh38
NC_000005.9:g.127522460C>A , CM000667.1:g.127522460C>A	GRCh37
NC_000005.8:g.127550359C>A	NCBI36
NG_042286.1:g.107978C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262461.7:c.*137C>A MANE Select	ENSP00000262461.2:n.*137C>A
ENST00000262461.6:c.*137C>A	ENSP00000262461.2:n.*137C>A
ENST00000343225.4:c.*137C>A	ENSP00000340878.4:n.*137C>A
ENST00000509205.5:c.*389C>A	ENSP00000427109.1:n.*389C>A
NM_001046.2:c.*137C>A	NP_001037.1:n.*137C>A
NM_001256461.1:c.*137C>A	NP_001243390.1:n.*137C>A
NR_046207.1:n.4006C>A
XM_017009771.1:c.*137C>A	XP_016865260.1:n.*137C>A
XR_001742214.1:n.4000C>A
NM_001046.3:c.*137C>A MANE Select	NP_001037.1:n.*137C>A
NM_001256461.2:c.*137C>A	NP_001243390.1:n.*137C>A
NR_046207.2:n.4031C>A