LDH info

Canonical Allele Identifier: CA329648
Gene: KCNJ2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 67564
ClinVar RCV Id: RCV000058300
dbSNP Id: rs199473370

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.70175262A>G , CM000679.2:g.70175262A>G GRCh38
NC_000017.10:g.68171403A>G , CM000679.1:g.68171403A>G GRCh37
NC_000017.9:g.65682998A>G NCBI36
NG_008798.1:g.10728A>G , LRG_328:g.10728A>G

Transcript Alleles

HGVS Amino-acid change
NM_000891.2:c.223A>G , LRG_328t1:c.223A>G NP_000882.1:p.Thr75Ala
XM_011524779.1:c.223A>G XP_011523081.1:p.Thr75Ala
NM_000891.3:c.223A>G VV MANE Preferred NP_000882.1:p.Thr75Ala
ENST00000243457.3:c.223A>G ENSP00000243457.2:p.Thr75Ala
ENST00000535240.1:c.223A>G ENSP00000441848.1:p.Thr75Ala