Canonical Allele Identifier: CA1581197763
Gene: SLC12A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128186748T= , CM000667.2:g.128186748T= GRCh38
NC_000005.9:g.127522440T= , CM000667.1:g.127522440T= GRCh37
NC_000005.8:g.127550339T= NCBI36
NG_042286.1:g.107958T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000262461.7:c.*117T= MANE Select ENSP00000262461.2:n.*117T=
ENST00000262461.6:c.*117T= ENSP00000262461.2:n.*117T=
ENST00000343225.4:c.*117T= ENSP00000340878.4:n.*117T=
ENST00000509205.5:c.*369T= ENSP00000427109.1:n.*369T=
NM_001046.2:c.*117T= NP_001037.1:n.*117T=
NM_001256461.1:c.*117T= NP_001243390.1:n.*117T=
NR_046207.1:n.3986T=
XM_017009771.1:c.*117T= XP_016865260.1:n.*117T=
XR_001742214.1:n.3980T=
NM_001046.3:c.*117T= MANE Select NP_001037.1:n.*117T=
NM_001256461.2:c.*117T= NP_001243390.1:n.*117T=
NR_046207.2:n.4011T=