LDH info

Canonical Allele Identifier: CA340691
Gene: PMM2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 7722
ClinVar RCV Id: RCV000008161
dbSNP Id: rs80338706

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8847761C>G , CM000678.2:g.8847761C>G GRCh38
NC_000016.9:g.8941618C>G , CM000678.1:g.8941618C>G GRCh37
NC_000016.8:g.8849119C>G NCBI36
NG_009209.1:g.54949C>G

Transcript Alleles

HGVS Amino-acid change
NM_000303.2:c.677C>G VV NP_000294.1:p.Thr226Ser
XM_005255374.3:c.428C>G XP_005255431.1:p.Thr143Ser
XM_011522538.1:c.640-7273C>G XP_011520840.1:p.=
XM_005255374.4:c.428C>G XP_005255431.1:p.Thr143Ser
NM_000303.3:c.677C>G VV MANE Preferred NP_000294.1:p.Thr226Ser
ENST00000268261.8:c.677C>G ENSP00000268261.4:p.Thr226Ser
ENST00000562025.1:n.211C>G
ENST00000562318.5:c.*399C>G ENSP00000454395.1:p.=
ENST00000565221.5:c.*295C>G ENSP00000457932.1:p.=
ENST00000566540.5:c.*299C>G ENSP00000454284.1:p.=
ENST00000566604.5:c.*217C>G ENSP00000456774.1:p.=
ENST00000566983.5:c.596C>G ENSP00000457956.1:p.Thr199Ser
ENST00000567697.1:n.3845C>G
ENST00000569958.5:c.404C>G ENSP00000456302.1:p.Thr135Ser
ENST00000570076.5:c.*135C>G ENSP00000456961.1:p.=