Canonical Allele Identifier: CA621172706
Gene: PMM2 HGNC NCBI

Linked Data

dbSNP Id: rs1450914932
gnomAD v2: 16-8941929-A-C
gnomAD v3: 16-8848072-A-C
gnomAD v4: 16-8848072-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8848072A>C , CM000678.2:g.8848072A>C GRCh38
NC_000016.9:g.8941929A>C , CM000678.1:g.8941929A>C GRCh37
NC_000016.8:g.8849430A>C NCBI36
NG_009209.1:g.55260A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000567697.2:n.4156A>C
ENST00000682393.1:c.*258-1297A>C ENSP00000506774.1:n.*258-1297A>C
ENST00000683094.1:c.*262-1297A>C ENSP00000508230.1:n.*262-1297A>C
ENST00000683274.1:c.*180-1297A>C ENSP00000507262.1:n.*180-1297A>C
ENST00000268261.9:c.*247A>C MANE Select ENSP00000268261.4:n.*247A>C
ENST00000268261.8:c.*247A>C ENSP00000268261.4:n.*247A>C
ENST00000562025.1:n.522A>C
ENST00000566540.5:c.*610A>C ENSP00000454284.1:n.*610A>C
ENST00000566604.5:c.*528A>C ENSP00000456774.1:n.*528A>C
ENST00000567697.1:n.4156A>C
ENST00000570076.5:c.*446A>C ENSP00000456961.1:n.*446A>C
NM_000303.2:c.*247A>C NP_000294.1:n.*247A>C
XM_005255374.3:c.*247A>C XP_005255431.1:n.*247A>C
XM_011522538.1:c.640-6962A>C XP_011520840.1:n.640-6962A>C
XM_005255374.4:c.*247A>C XP_005255431.1:n.*247A>C
NM_000303.3:c.*247A>C MANE Select NP_000294.1:n.*247A>C