Canonical Allele Identifier: CA12035909
Gene: SLC12A2 HGNC NCBI

Linked Data

dbSNP Id: rs10089

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128186851C>T , CM000667.2:g.128186851C>T GRCh38
NC_000005.9:g.127522543C>T , CM000667.1:g.127522543C>T GRCh37
NC_000005.8:g.127550442C>T NCBI36
NG_042286.1:g.108061C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000262461.7:c.*220C>T MANE Select ENSP00000262461.2:p.=
ENST00000262461.6:c.*220C>T ENSP00000262461.2:p.=
ENST00000343225.4:c.*220C>T ENSP00000340878.4:p.=
ENST00000509205.5:c.*472C>T ENSP00000427109.1:p.=
NM_001046.2:c.*220C>T NP_001037.1:p.=
NM_001256461.1:c.*220C>T NP_001243390.1:p.=
NR_046207.1:n.4089C>T
XM_017009771.1:c.*220C>T XP_016865260.1:p.=
XR_001742214.1:n.4083C>T
NM_001046.3:c.*220C>T MANE Select NP_001037.1:p.=
NM_001256461.2:c.*220C>T NP_001243390.1:p.=
NR_046207.2:n.4114C>T