Canonical Allele Identifier: CA803610352

Gene: SLC12A2

Linked Data

• dbSNP Id: rs1158508021
• gnomAD v3: 5-128186763-GC-G
• gnomAD v4: 5-128186763-GC-G
• MyVariant Identifiers: chr5:g.127522456del (hg19) ; chr5:g.128186764del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128186764del , CM000667.2:g.128186764del	GRCh38
NC_000005.9:g.127522456del , CM000667.1:g.127522456del	GRCh37
NC_000005.8:g.127550355del	NCBI36
NG_042286.1:g.107974del

Transcript Alleles

HGVS	Amino-acid change
ENST00000262461.7:c.*133del MANE Select	ENSP00000262461.2:n.*133del
ENST00000262461.6:c.*133del	ENSP00000262461.2:n.*133del
ENST00000343225.4:c.*133del	ENSP00000340878.4:n.*133del
ENST00000509205.5:c.*385del	ENSP00000427109.1:n.*385del
NM_001046.2:c.*133del	NP_001037.1:n.*133del
NM_001256461.1:c.*133del	NP_001243390.1:n.*133del
NR_046207.1:n.4002del
XM_017009771.1:c.*133del	XP_016865260.1:n.*133del
XR_001742214.1:n.3996del
NM_001046.3:c.*133del MANE Select	NP_001037.1:n.*133del
NM_001256461.2:c.*133del	NP_001243390.1:n.*133del
NR_046207.2:n.4027del