Canonical Allele Identifier: CA1581197614
Gene: SLC12A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128186604T= , CM000667.2:g.128186604T= GRCh38
NC_000005.9:g.127522296T= , CM000667.1:g.127522296T= GRCh37
NC_000005.8:g.127550195T= NCBI36
NG_042286.1:g.107814T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000262461.7:c.3612T= MANE Select ENSP00000262461.2:p.His1204=
ENST00000262461.6:c.3612T= ENSP00000262461.2:p.His1204=
ENST00000343225.4:c.3564T= ENSP00000340878.4:p.His1188=
ENST00000509205.5:c.*225T= ENSP00000427109.1:n.*225T=
NM_001046.2:c.3612T= NP_001037.1:p.His1204=
NM_001256461.1:c.3564T= NP_001243390.1:p.His1188=
NR_046207.1:n.3842T=
XM_017009771.1:c.1854T= XP_016865260.1:p.His618=
XR_001742214.1:n.3836T=
NM_001046.3:c.3612T= MANE Select NP_001037.1:p.His1204=
NM_001256461.2:c.3564T= NP_001243390.1:p.His1188=
NR_046207.2:n.3867T=