Canonical Allele Identifier: CA1581197701
Gene: SLC12A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128186680T= , CM000667.2:g.128186680T= GRCh38
NC_000005.9:g.127522372T= , CM000667.1:g.127522372T= GRCh37
NC_000005.8:g.127550271T= NCBI36
NG_042286.1:g.107890T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000262461.7:c.*49T= MANE Select ENSP00000262461.2:n.*49T=
ENST00000262461.6:c.*49T= ENSP00000262461.2:n.*49T=
ENST00000343225.4:c.*49T= ENSP00000340878.4:n.*49T=
ENST00000509205.5:c.*301T= ENSP00000427109.1:n.*301T=
NM_001046.2:c.*49T= NP_001037.1:n.*49T=
NM_001256461.1:c.*49T= NP_001243390.1:n.*49T=
NR_046207.1:n.3918T=
XM_017009771.1:c.*49T= XP_016865260.1:n.*49T=
XR_001742214.1:n.3912T=
NM_001046.3:c.*49T= MANE Select NP_001037.1:n.*49T=
NM_001256461.2:c.*49T= NP_001243390.1:n.*49T=
NR_046207.2:n.3943T=