Canonical Allele Identifier: CA2675109994

Gene: SLC12A2

Linked Data

• gnomAD v4: 5-128186649-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128186649C>T , CM000667.2:g.128186649C>T	GRCh38
NC_000005.9:g.127522341C>T , CM000667.1:g.127522341C>T	GRCh37
NC_000005.8:g.127550240C>T	NCBI36
NG_042286.1:g.107859C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262461.7:c.*18C>T MANE Select	ENSP00000262461.2:n.*18C>T
ENST00000262461.6:c.*18C>T	ENSP00000262461.2:n.*18C>T
ENST00000343225.4:c.*18C>T	ENSP00000340878.4:n.*18C>T
ENST00000509205.5:c.*270C>T	ENSP00000427109.1:n.*270C>T
NM_001046.2:c.*18C>T	NP_001037.1:n.*18C>T
NM_001256461.1:c.*18C>T	NP_001243390.1:n.*18C>T
NR_046207.1:n.3887C>T
XM_017009771.1:c.*18C>T	XP_016865260.1:n.*18C>T
XR_001742214.1:n.3881C>T
NM_001046.3:c.*18C>T MANE Select	NP_001037.1:n.*18C>T
NM_001256461.2:c.*18C>T	NP_001243390.1:n.*18C>T
NR_046207.2:n.3912C>T