LDH info

Canonical Allele Identifier: CA302055
Gene: KCNJ2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 190816
dbSNP Id: rs786205818

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.70175940A>G , CM000679.2:g.70175940A>G GRCh38
NC_000017.10:g.68172081A>G , CM000679.1:g.68172081A>G GRCh37
NC_000017.9:g.65683676A>G NCBI36
NG_008798.1:g.11406A>G , LRG_328:g.11406A>G

Transcript Alleles

HGVS Amino-acid change
NM_000891.2:c.901A>G , LRG_328t1:c.901A>G NP_000882.1:p.Met301Val
XM_011524779.1:c.901A>G XP_011523081.1:p.Met301Val
ENST00000243457.3:c.901A>G ENSP00000243457.2:p.Met301Val
ENST00000535240.1:c.901A>G ENSP00000441848.1:p.Met301Val