LDH info

Canonical Allele Identifier: CA16041797
Gene: PMM2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371239
ClinVar RCV Id: RCV000409924
dbSNP Id: rs1057517117

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8806408G>A , CM000678.2:g.8806408G>A GRCh38
NC_000016.9:g.8900265G>A , CM000678.1:g.8900265G>A GRCh37
NC_000016.8:g.8807766G>A NCBI36
NG_009209.1:g.13596G>A

Transcript Alleles

HGVS Amino-acid change
NM_000303.2:c.347+1G>A VV NP_000294.1:p.=
XM_005255372.3:c.347+1G>A XP_005255429.1:p.=
XM_005255373.3:c.98+1G>A XP_005255430.1:p.=
XM_005255374.3:c.98+1G>A XP_005255431.1:p.=
XM_011522538.1:c.347+1G>A XP_011520840.1:p.=
XM_011522539.1:c.-29+4498G>A XP_011520841.1:p.=
XM_005255374.4:c.98+1G>A XP_005255431.1:p.=
NM_000303.3:c.347+1G>A VV MANE Preferred NP_000294.1:p.=
ENST00000268261.8:c.347+1G>A ENSP00000268261.4:p.=
ENST00000562318.5:c.*69+1G>A ENSP00000454395.1:p.=
ENST00000562448.1:n.312G>A
ENST00000564030.5:n.410G>A
ENST00000564069.1:n.318+1G>A
ENST00000565221.5:c.178+4498G>A ENSP00000457932.1:p.=
ENST00000565896.5:c.*145+4019G>A ENSP00000456024.1:p.=
ENST00000566540.5:c.*69+1G>A ENSP00000454284.1:p.=
ENST00000566604.5:c.347+1G>A ENSP00000456774.1:p.=
ENST00000566983.5:c.266+1G>A ENSP00000457956.1:p.=
ENST00000568602.5:c.*200+1G>A ENSP00000455066.1:p.=
ENST00000569958.5:c.178+4498G>A ENSP00000456302.1:p.=
ENST00000570076.5:c.178+4498G>A ENSP00000456961.1:p.=
ENST00000570134.5:c.*69+1G>A ENSP00000456275.1:p.=