Canonical Allele Identifier: CA2675110048

Gene: SLC12A2

Linked Data

• gnomAD v4: 5-128186761-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128186761A>T , CM000667.2:g.128186761A>T	GRCh38
NC_000005.9:g.127522453A>T , CM000667.1:g.127522453A>T	GRCh37
NC_000005.8:g.127550352A>T	NCBI36
NG_042286.1:g.107971A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262461.7:c.*130A>T MANE Select	ENSP00000262461.2:n.*130A>T
ENST00000262461.6:c.*130A>T	ENSP00000262461.2:n.*130A>T
ENST00000343225.4:c.*130A>T	ENSP00000340878.4:n.*130A>T
ENST00000509205.5:c.*382A>T	ENSP00000427109.1:n.*382A>T
NM_001046.2:c.*130A>T	NP_001037.1:n.*130A>T
NM_001256461.1:c.*130A>T	NP_001243390.1:n.*130A>T
NR_046207.1:n.3999A>T
XM_017009771.1:c.*130A>T	XP_016865260.1:n.*130A>T
XR_001742214.1:n.3993A>T
NM_001046.3:c.*130A>T MANE Select	NP_001037.1:n.*130A>T
NM_001256461.2:c.*130A>T	NP_001243390.1:n.*130A>T
NR_046207.2:n.4024A>T