Canonical Allele Identifier: CA1581197715
Gene: SLC12A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128186706C= , CM000667.2:g.128186706C= GRCh38
NC_000005.9:g.127522398C= , CM000667.1:g.127522398C= GRCh37
NC_000005.8:g.127550297C= NCBI36
NG_042286.1:g.107916C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000262461.7:c.*75C= MANE Select ENSP00000262461.2:n.*75C=
ENST00000262461.6:c.*75C= ENSP00000262461.2:n.*75C=
ENST00000343225.4:c.*75C= ENSP00000340878.4:n.*75C=
ENST00000509205.5:c.*327C= ENSP00000427109.1:n.*327C=
NM_001046.2:c.*75C= NP_001037.1:n.*75C=
NM_001256461.1:c.*75C= NP_001243390.1:n.*75C=
NR_046207.1:n.3944C=
XM_017009771.1:c.*75C= XP_016865260.1:n.*75C=
XR_001742214.1:n.3938C=
NM_001046.3:c.*75C= MANE Select NP_001037.1:n.*75C=
NM_001256461.2:c.*75C= NP_001243390.1:n.*75C=
NR_046207.2:n.3969C=