Canonical Allele Identifier: CA1581197721
Gene: SLC12A2 HGNC NCBI

Linked Data

dbSNP Id: rs1763881271

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128186709T>G , CM000667.2:g.128186709T>G GRCh38
NC_000005.9:g.127522401T>G , CM000667.1:g.127522401T>G GRCh37
NC_000005.8:g.127550300T>G NCBI36
NG_042286.1:g.107919T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000262461.7:c.*78T>G MANE Select ENSP00000262461.2:n.*78T>G
ENST00000262461.6:c.*78T>G ENSP00000262461.2:n.*78T>G
ENST00000343225.4:c.*78T>G ENSP00000340878.4:n.*78T>G
ENST00000509205.5:c.*330T>G ENSP00000427109.1:n.*330T>G
NM_001046.2:c.*78T>G NP_001037.1:n.*78T>G
NM_001256461.1:c.*78T>G NP_001243390.1:n.*78T>G
NR_046207.1:n.3947T>G
XM_017009771.1:c.*78T>G XP_016865260.1:n.*78T>G
XR_001742214.1:n.3941T>G
NM_001046.3:c.*78T>G MANE Select NP_001037.1:n.*78T>G
NM_001256461.2:c.*78T>G NP_001243390.1:n.*78T>G
NR_046207.2:n.3972T>G