Canonical Allele Identifier: CA7894003
Gene: PMM2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1037901
ClinVar RCV Id: RCV001341128
dbSNP Id: rs757323701
gnomAD v2: 16-8900251-C-G
gnomAD v3: 16-8806394-C-G
gnomAD v4: 16-8806394-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8806394C>G , CM000678.2:g.8806394C>G GRCh38
NC_000016.9:g.8900251C>G , CM000678.1:g.8900251C>G GRCh37
NC_000016.8:g.8807752C>G NCBI36
NG_009209.1:g.13582C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682008.1:c.334C>G ENSP00000507849.1:p.Leu112Val
ENST00000682393.1:c.178+4484C>G ENSP00000506774.1:n.178+4484C>G
ENST00000683094.1:c.*56C>G ENSP00000508230.1:n.*56C>G
ENST00000683274.1:c.334C>G ENSP00000507262.1:p.Leu112Val
ENST00000683435.1:c.*330C>G ENSP00000508092.1:n.*330C>G
ENST00000268261.9:c.334C>G MANE Select ENSP00000268261.4:p.Leu112Val
ENST00000268261.8:c.334C>G ENSP00000268261.4:p.Leu112Val
ENST00000562318.5:c.*56C>G ENSP00000454395.1:n.*56C>G
ENST00000562448.1:n.298C>G
ENST00000564030.5:n.396C>G
ENST00000564069.1:c.305C>G
ENST00000565221.5:c.178+4484C>G ENSP00000457932.1:n.178+4484C>G
ENST00000565896.5:c.*145+4005C>G ENSP00000456024.1:n.*145+4005C>G
ENST00000566540.5:c.*56C>G ENSP00000454284.1:n.*56C>G
ENST00000566604.5:c.334C>G ENSP00000456774.1:p.Leu112Val
ENST00000566983.5:c.253C>G ENSP00000457956.1:p.Leu85Val
ENST00000568602.5:c.*187C>G ENSP00000455066.1:n.*187C>G
ENST00000569958.5:c.178+4484C>G ENSP00000456302.1:n.178+4484C>G
ENST00000570076.5:c.178+4484C>G ENSP00000456961.1:n.178+4484C>G
ENST00000570134.5:c.*56C>G ENSP00000456275.1:n.*56C>G
NM_000303.2:c.334C>G NP_000294.1:p.Leu112Val
XM_005255372.3:c.334C>G XP_005255429.1:p.Leu112Val
XM_005255373.3:c.85C>G XP_005255430.1:p.Leu29Val
XM_005255374.3:c.85C>G XP_005255431.1:p.Leu29Val
XM_011522538.1:c.334C>G XP_011520840.1:p.Leu112Val
XM_011522539.1:c.-29+4484C>G XP_011520841.1:n.-29+4484C>G
XM_005255374.4:c.85C>G XP_005255431.1:p.Leu29Val
NM_000303.3:c.334C>G MANE Select NP_000294.1:p.Leu112Val