LDH info

Canonical Allele Identifier: CA220628
Gene: PMM2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 7719
ClinVar RCV Id: RCV000008158
dbSNP Id: rs80338707

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8847775G>A , CM000678.2:g.8847775G>A GRCh38
NC_000016.9:g.8941632G>A , CM000678.1:g.8941632G>A GRCh37
NC_000016.8:g.8849133G>A NCBI36
NG_009209.1:g.54963G>A

Transcript Alleles

HGVS Amino-acid change
NM_000303.2:c.691G>A VV NP_000294.1:p.Val231Met
XM_005255374.3:c.442G>A XP_005255431.1:p.Val148Met
XM_011522538.1:c.640-7259G>A XP_011520840.1:p.=
XM_005255374.4:c.442G>A XP_005255431.1:p.Val148Met
NM_000303.3:c.691G>A VV MANE Preferred NP_000294.1:p.Val231Met
ENST00000268261.8:c.691G>A ENSP00000268261.4:p.Val231Met
ENST00000562025.1:n.225G>A
ENST00000562318.5:c.*413G>A ENSP00000454395.1:p.=
ENST00000565221.5:c.*309G>A ENSP00000457932.1:p.=
ENST00000566540.5:c.*313G>A ENSP00000454284.1:p.=
ENST00000566604.5:c.*231G>A ENSP00000456774.1:p.=
ENST00000566983.5:c.610G>A ENSP00000457956.1:p.Val204Met
ENST00000567697.1:n.3859G>A
ENST00000569958.5:c.418G>A ENSP00000456302.1:p.Val140Met
ENST00000570076.5:c.*149G>A ENSP00000456961.1:p.=