Canonical Allele Identifier: CA1581197680
Gene: SLC12A2 HGNC NCBI

Linked Data

dbSNP Id: rs1763879927

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128186664del , CM000667.2:g.128186664del GRCh38
NC_000005.9:g.127522356del , CM000667.1:g.127522356del GRCh37
NC_000005.8:g.127550255del NCBI36
NG_042286.1:g.107874del

Transcript Alleles

HGVS Amino-acid Change
ENST00000262461.7:c.*33del MANE Select ENSP00000262461.2:n.*33del
ENST00000262461.6:c.*33del ENSP00000262461.2:n.*33del
ENST00000343225.4:c.*33del ENSP00000340878.4:n.*33del
ENST00000509205.5:c.*285del ENSP00000427109.1:n.*285del
NM_001046.2:c.*33del NP_001037.1:n.*33del
NM_001256461.1:c.*33del NP_001243390.1:n.*33del
NR_046207.1:n.3902del
XM_017009771.1:c.*33del XP_016865260.1:n.*33del
XR_001742214.1:n.3896del
NM_001046.3:c.*33del MANE Select NP_001037.1:n.*33del
NM_001256461.2:c.*33del NP_001243390.1:n.*33del
NR_046207.2:n.3927del