Canonical Allele Identifier: CA1139664478

Gene: PMM2

Linked Data

• ClinVar Variation Id: 886922
• ClinVar RCV Id: RCV001119369
• dbSNP Id: rs2060940260
• gnomAD v4: 16-8848080-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8848080A>G , CM000678.2:g.8848080A>G	GRCh38
NC_000016.9:g.8941937A>G , CM000678.1:g.8941937A>G	GRCh37
NC_000016.8:g.8849438A>G	NCBI36
NG_009209.1:g.55268A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.4164A>G
ENST00000682393.1:c.*258-1289A>G	ENSP00000506774.1:n.*258-1289A>G
ENST00000683094.1:c.*262-1289A>G	ENSP00000508230.1:n.*262-1289A>G
ENST00000683274.1:c.*180-1289A>G	ENSP00000507262.1:n.*180-1289A>G
ENST00000268261.9:c.*255A>G MANE Select	ENSP00000268261.4:n.*255A>G
ENST00000268261.8:c.*255A>G	ENSP00000268261.4:n.*255A>G
ENST00000562025.1:n.530A>G
ENST00000566540.5:c.*618A>G	ENSP00000454284.1:n.*618A>G
ENST00000566604.5:c.*536A>G	ENSP00000456774.1:n.*536A>G
ENST00000567697.1:n.4164A>G
ENST00000570076.5:c.*454A>G	ENSP00000456961.1:n.*454A>G
NM_000303.2:c.*255A>G	NP_000294.1:n.*255A>G
XM_005255374.3:c.*255A>G	XP_005255431.1:n.*255A>G
XM_011522538.1:c.640-6954A>G	XP_011520840.1:n.640-6954A>G
XM_005255374.4:c.*255A>G	XP_005255431.1:n.*255A>G
NM_000303.3:c.*255A>G MANE Select	NP_000294.1:n.*255A>G