Canonical Allele Identifier: CA1081359555

Gene: SLC12A2

Linked Data

• dbSNP Id: rs1763885977
• gnomAD v3: 5-128186851-CT-C
• gnomAD v4: 5-128186851-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128186852del , CM000667.2:g.128186852del	GRCh38
NC_000005.9:g.127522544del , CM000667.1:g.127522544del	GRCh37
NC_000005.8:g.127550443del	NCBI36
NG_042286.1:g.108062del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262461.7:c.*221del MANE Select	ENSP00000262461.2:n.*221del
ENST00000262461.6:c.*221del	ENSP00000262461.2:n.*221del
ENST00000343225.4:c.*221del	ENSP00000340878.4:n.*221del
ENST00000509205.5:c.*473del	ENSP00000427109.1:n.*473del
NM_001046.2:c.*221del	NP_001037.1:n.*221del
NM_001256461.1:c.*221del	NP_001243390.1:n.*221del
NR_046207.1:n.4090del
XM_017009771.1:c.*221del	XP_016865260.1:n.*221del
XR_001742214.1:n.4084del
NM_001046.3:c.*221del MANE Select	NP_001037.1:n.*221del
NM_001256461.2:c.*221del	NP_001243390.1:n.*221del
NR_046207.2:n.4115del