LDH info

Canonical Allele Identifier: CA329663
Gene: KCNJ2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 67572
ClinVar RCV Id: RCV000058310
dbSNP Id: rs199473376

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.70175446C>T , CM000679.2:g.70175446C>T GRCh38
NC_000017.10:g.68171587C>T , CM000679.1:g.68171587C>T GRCh37
NC_000017.9:g.65683182C>T NCBI36
NG_008798.1:g.10912C>T , LRG_328:g.10912C>T

Transcript Alleles

HGVS Amino-acid change
NM_000891.2:c.407C>T , LRG_328t1:c.407C>T NP_000882.1:p.Ser136Phe
XM_011524779.1:c.407C>T XP_011523081.1:p.Ser136Phe
NM_000891.3:c.407C>T VV MANE Preferred NP_000882.1:p.Ser136Phe
ENST00000243457.3:c.407C>T ENSP00000243457.2:p.Ser136Phe
ENST00000535240.1:c.407C>T ENSP00000441848.1:p.Ser136Phe