Canonical Allele Identifier: CA1581197801
Gene: SLC12A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128186779_128186780delinsCT , CM000667.2:g.128186779_128186780delinsCT GRCh38
NC_000005.9:g.127522471_127522472delinsCT , CM000667.1:g.127522471_127522472delinsCT GRCh37
NC_000005.8:g.127550370_127550371delinsCT NCBI36
NG_042286.1:g.107989_107990delinsCT

Transcript Alleles

HGVS Amino-acid change
ENST00000262461.7:c.*148_*149delinsCT MANE Select ENSP00000262461.2:n.*148_*149delinsCT
ENST00000262461.6:c.*148_*149delinsCT ENSP00000262461.2:n.*148_*149delinsCT
ENST00000343225.4:c.*148_*149delinsCT ENSP00000340878.4:n.*148_*149delinsCT
ENST00000509205.5:c.*400_*401delinsCT ENSP00000427109.1:n.*400_*401delinsCT
NM_001046.2:c.*148_*149delinsCT NP_001037.1:n.*148_*149delinsCT
NM_001256461.1:c.*148_*149delinsCT NP_001243390.1:n.*148_*149delinsCT
NR_046207.1:n.4017_4018delinsCT
XM_017009771.1:c.*148_*149delinsCT XP_016865260.1:n.*148_*149delinsCT
XR_001742214.1:n.4011_4012delinsCT
NM_001046.3:c.*148_*149delinsCT MANE Select NP_001037.1:n.*148_*149delinsCT
NM_001256461.2:c.*148_*149delinsCT NP_001243390.1:n.*148_*149delinsCT
NR_046207.2:n.4042_4043delinsCT