Canonical Allele Identifier: CA493489291
Gene: PMM2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8847704T>C , CM000678.2:g.8847704T>C GRCh38
NC_000016.9:g.8941561T>C , CM000678.1:g.8941561T>C GRCh37
NC_000016.8:g.8849062T>C NCBI36
NG_009209.1:g.54892T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000567697.2:n.3808-20T>C
ENST00000682393.1:c.*258-1665T>C ENSP00000506774.1:n.*258-1665T>C
ENST00000683094.1:c.*262-1665T>C ENSP00000508230.1:n.*262-1665T>C
ENST00000683274.1:c.*180-1665T>C ENSP00000507262.1:n.*180-1665T>C
ENST00000683435.1:c.*536-20T>C ENSP00000508092.1:n.*536-20T>C
ENST00000268261.9:c.640-20T>C MANE Select ENSP00000268261.4:n.640-20T>C
ENST00000268261.8:c.640-20T>C ENSP00000268261.4:n.640-20T>C
ENST00000562025.1:n.174-20T>C
ENST00000562318.5:c.*362-20T>C ENSP00000454395.1:n.*362-20T>C
ENST00000565221.5:c.*258-20T>C ENSP00000457932.1:n.*258-20T>C
ENST00000566540.5:c.*262-20T>C ENSP00000454284.1:n.*262-20T>C
ENST00000566604.5:c.*180-20T>C ENSP00000456774.1:n.*180-20T>C
ENST00000566983.5:c.559-20T>C ENSP00000457956.1:n.559-20T>C
ENST00000567697.1:n.3808-20T>C
ENST00000569958.5:c.367-20T>C ENSP00000456302.1:n.367-20T>C
ENST00000570076.5:c.*98-20T>C ENSP00000456961.1:n.*98-20T>C
NM_000303.2:c.640-20T>C NP_000294.1:n.640-20T>C
XM_005255374.3:c.391-20T>C XP_005255431.1:n.391-20T>C
XM_011522538.1:c.640-7330T>C XP_011520840.1:n.640-7330T>C
XM_005255374.4:c.391-20T>C XP_005255431.1:n.391-20T>C
NM_000303.3:c.640-20T>C MANE Select NP_000294.1:n.640-20T>C