LDH info

Canonical Allele Identifier: CA116124
Gene: MC2R HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 3266
ClinVar RCV Id: RCV000003422
dbSNP Id: rs28940892

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13884758T>C , CM000680.2:g.13884758T>C GRCh38
NC_000018.9:g.13884757T>C , CM000680.1:g.13884757T>C GRCh37
NC_000018.8:g.13874757T>C NCBI36
NG_011819.1:g.35779A>G

Transcript Alleles

HGVS Amino-acid change
NM_000529.2:c.761A>G VV MANE Preferred NP_000520.1:p.Tyr254Cys
NM_001291911.1:c.761A>G VV NP_001278840.1:p.Tyr254Cys
XM_017025781.1:c.761A>G XP_016881270.1:p.Tyr254Cys
ENST00000327606.3:c.761A>G ENSP00000333821.2:p.Tyr254Cys