Canonical Allele Identifier: CA1581197753
Gene: SLC12A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128186744C= , CM000667.2:g.128186744C= GRCh38
NC_000005.9:g.127522436C= , CM000667.1:g.127522436C= GRCh37
NC_000005.8:g.127550335C= NCBI36
NG_042286.1:g.107954C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000262461.7:c.*113C= MANE Select ENSP00000262461.2:n.*113C=
ENST00000262461.6:c.*113C= ENSP00000262461.2:n.*113C=
ENST00000343225.4:c.*113C= ENSP00000340878.4:n.*113C=
ENST00000509205.5:c.*365C= ENSP00000427109.1:n.*365C=
NM_001046.2:c.*113C= NP_001037.1:n.*113C=
NM_001256461.1:c.*113C= NP_001243390.1:n.*113C=
NR_046207.1:n.3982C=
XM_017009771.1:c.*113C= XP_016865260.1:n.*113C=
XR_001742214.1:n.3976C=
NM_001046.3:c.*113C= MANE Select NP_001037.1:n.*113C=
NM_001256461.2:c.*113C= NP_001243390.1:n.*113C=
NR_046207.2:n.4007C=