LDH info

Canonical Allele Identifier: CA254233
Gene: PMM2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 7713
ClinVar RCV Id: RCV000008152
dbSNP Id: rs104894530

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8811080G>C , CM000678.2:g.8811080G>C GRCh38
NC_000016.9:g.8904937G>C , CM000678.1:g.8904937G>C GRCh37
NC_000016.8:g.8812438G>C NCBI36
NG_009209.1:g.18268G>C

Transcript Alleles

HGVS Amino-acid change
NM_000303.2:c.349G>C VV NP_000294.1:p.Gly117Arg
XM_005255372.3:c.349G>C XP_005255429.1:p.Gly117Arg
XM_005255373.3:c.100G>C XP_005255430.1:p.Gly34Arg
XM_005255374.3:c.100G>C XP_005255431.1:p.Gly34Arg
XM_011522538.1:c.349G>C XP_011520840.1:p.Gly117Arg
XM_011522539.1:c.-27G>C XP_011520841.1:p.=
XM_005255374.4:c.100G>C XP_005255431.1:p.Gly34Arg
NM_000303.3:c.349G>C VV MANE Preferred NP_000294.1:p.Gly117Arg
ENST00000268261.8:c.349G>C ENSP00000268261.4:p.Gly117Arg
ENST00000562318.5:c.*71G>C ENSP00000454395.1:p.=
ENST00000564069.1:n.320G>C
ENST00000565221.5:c.180G>C ENSP00000457932.1:p.Gly60=
ENST00000565896.5:c.*147G>C ENSP00000456024.1:p.=
ENST00000566540.5:c.*70-558G>C ENSP00000454284.1:p.=
ENST00000566604.5:c.348-558G>C ENSP00000456774.1:p.=
ENST00000566983.5:c.268G>C ENSP00000457956.1:p.Gly90Arg
ENST00000567697.1:n.3517G>C
ENST00000568602.5:c.*202G>C ENSP00000455066.1:p.=
ENST00000569958.5:c.179-562G>C ENSP00000456302.1:p.=
ENST00000570076.5:c.179-558G>C ENSP00000456961.1:p.=
ENST00000570134.5:c.*70-558G>C ENSP00000456275.1:p.=