LDH info

Canonical Allele Identifier: CA302052
Gene: KCNJ2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 190815
ClinVar RCV Id: RCV000170986
dbSNP Id: rs786205817

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.70175935A>T , CM000679.2:g.70175935A>T GRCh38
NC_000017.10:g.68172076A>T , CM000679.1:g.68172076A>T GRCh37
NC_000017.9:g.65683671A>T NCBI36
NG_008798.1:g.11401A>T , LRG_328:g.11401A>T

Transcript Alleles

HGVS Amino-acid change
NM_000891.2:c.896A>T , LRG_328t1:c.896A>T NP_000882.1:p.Glu299Val
XM_011524779.1:c.896A>T XP_011523081.1:p.Glu299Val
NM_000891.3:c.896A>T VV MANE Preferred NP_000882.1:p.Glu299Val
ENST00000243457.3:c.896A>T ENSP00000243457.2:p.Glu299Val
ENST00000535240.1:c.896A>T ENSP00000441848.1:p.Glu299Val