Canonical Allele Identifier: CA1581197804
Gene: SLC12A2 HGNC NCBI

Linked Data

dbSNP Id: rs1763883612

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128186780del , CM000667.2:g.128186780del GRCh38
NC_000005.9:g.127522472del , CM000667.1:g.127522472del GRCh37
NC_000005.8:g.127550371del NCBI36
NG_042286.1:g.107990del

Transcript Alleles

HGVS Amino-acid Change
ENST00000262461.7:c.*149del MANE Select ENSP00000262461.2:n.*149del
ENST00000262461.6:c.*149del ENSP00000262461.2:n.*149del
ENST00000343225.4:c.*149del ENSP00000340878.4:n.*149del
ENST00000509205.5:c.*401del ENSP00000427109.1:n.*401del
NM_001046.2:c.*149del NP_001037.1:n.*149del
NM_001256461.1:c.*149del NP_001243390.1:n.*149del
NR_046207.1:n.4018del
XM_017009771.1:c.*149del XP_016865260.1:n.*149del
XR_001742214.1:n.4012del
NM_001046.3:c.*149del MANE Select NP_001037.1:n.*149del
NM_001256461.2:c.*149del NP_001243390.1:n.*149del
NR_046207.2:n.4043del