Canonical Allele Identifier: CA2675110049

Gene: SLC12A2

Linked Data

• gnomAD v4: 5-128186762-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128186762A>C , CM000667.2:g.128186762A>C	GRCh38
NC_000005.9:g.127522454A>C , CM000667.1:g.127522454A>C	GRCh37
NC_000005.8:g.127550353A>C	NCBI36
NG_042286.1:g.107972A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000262461.7:c.*131A>C MANE Select	ENSP00000262461.2:n.*131A>C
ENST00000262461.6:c.*131A>C	ENSP00000262461.2:n.*131A>C
ENST00000343225.4:c.*131A>C	ENSP00000340878.4:n.*131A>C
ENST00000509205.5:c.*383A>C	ENSP00000427109.1:n.*383A>C
NM_001046.2:c.*131A>C	NP_001037.1:n.*131A>C
NM_001256461.1:c.*131A>C	NP_001243390.1:n.*131A>C
NR_046207.1:n.4000A>C
XM_017009771.1:c.*131A>C	XP_016865260.1:n.*131A>C
XR_001742214.1:n.3994A>C
NM_001046.3:c.*131A>C MANE Select	NP_001037.1:n.*131A>C
NM_001256461.2:c.*131A>C	NP_001243390.1:n.*131A>C
NR_046207.2:n.4025A>C