Canonical Allele Identifier: CA2697546449

Gene: SLC12A2

Linked Data

• ClinVar Variation Id: 2689994
• ClinVar RCV Id: RCV003491491

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128186619del , CM000667.2:g.128186619del	GRCh38
NC_000005.9:g.127522311del , CM000667.1:g.127522311del	GRCh37
NC_000005.8:g.127550210del	NCBI36
NG_042286.1:g.107829del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262461.7:c.3627del MANE Select	ENSP00000262461.2:p.Phe1210SerfsTer?
ENST00000262461.6:c.3627del	ENSP00000262461.2:p.Phe1210SerfsTer?
ENST00000343225.4:c.3579del	ENSP00000340878.4:p.Phe1194SerfsTer?
ENST00000509205.5:c.*240del	ENSP00000427109.1:n.*240del
NM_001046.2:c.3627del	NP_001037.1:p.Phe1210SerfsTer?
NM_001256461.1:c.3579del	NP_001243390.1:p.Phe1194SerfsTer?
NR_046207.1:n.3857del
XM_017009771.1:c.1869del	XP_016865260.1:p.Phe624SerfsTer?
XR_001742214.1:n.3851del
NM_001046.3:c.3627del MANE Select	NP_001037.1:p.Phe1210SerfsTer?
NM_001256461.2:c.3579del	NP_001243390.1:p.Phe1194SerfsTer?
NR_046207.2:n.3882del