Canonical Allele Identifier: CA2206133217

Gene: PMM2

Linked Data

• ClinVar Variation Id: 2677900
• ClinVar RCV Id: RCV003471706
• dbSNP Id: rs2060647914

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8806388_8806389insGGGAA , CM000678.2:g.8806388_8806389insGGGAA	GRCh38
NC_000016.9:g.8900245_8900246insGGGAA , CM000678.1:g.8900245_8900246insGGGAA	GRCh37
NC_000016.8:g.8807746_8807747insGGGAA	NCBI36
NG_009209.1:g.13576_13577insGGGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682008.1:c.328_329insGGGAA	ENSP00000507849.1:p.Ile110ArgfsTer20
ENST00000682393.1:c.178+4478_178+4479insGGGAA	ENSP00000506774.1:n.178+4478_178+4479insGGGAA
ENST00000683094.1:c.*50_*51insGGGAA	ENSP00000508230.1:n.*50_*51insGGGAA
ENST00000683274.1:c.328_329insGGGAA	ENSP00000507262.1:p.Ile110ArgfsTer?
ENST00000683435.1:c.*324_*325insGGGAA	ENSP00000508092.1:n.*324_*325insGGGAA
ENST00000268261.9:c.328_329insGGGAA MANE Select	ENSP00000268261.4:p.Ile110ArgfsTer20
ENST00000268261.8:c.328_329insGGGAA	ENSP00000268261.4:p.Ile110ArgfsTer20
ENST00000562318.5:c.*50_*51insGGGAA	ENSP00000454395.1:n.*50_*51insGGGAA
ENST00000562448.1:n.292_293insGGGAA
ENST00000564030.5:n.390_391insGGGAA
ENST00000564069.1:c.299_300insGGGAA
ENST00000565221.5:c.178+4478_178+4479insGGGAA	ENSP00000457932.1:n.178+4478_178+4479insGGGAA
ENST00000565896.5:c.*145+3999_*145+4000insGGGAA	ENSP00000456024.1:n.*145+3999_*145+4000insGGGAA
ENST00000566540.5:c.*50_*51insGGGAA	ENSP00000454284.1:n.*50_*51insGGGAA
ENST00000566604.5:c.328_329insGGGAA	ENSP00000456774.1:p.Ile110ArgfsTer?
ENST00000566983.5:c.247_248insGGGAA	ENSP00000457956.1:p.Ile83ArgfsTer20
ENST00000568602.5:c.*181_*182insGGGAA	ENSP00000455066.1:n.*181_*182insGGGAA
ENST00000569958.5:c.178+4478_178+4479insGGGAA	ENSP00000456302.1:n.178+4478_178+4479insGGGAA
ENST00000570076.5:c.178+4478_178+4479insGGGAA	ENSP00000456961.1:n.178+4478_178+4479insGGGAA
ENST00000570134.5:c.*50_*51insGGGAA	ENSP00000456275.1:n.*50_*51insGGGAA
NM_000303.2:c.328_329insGGGAA	NP_000294.1:p.Ile110ArgfsTer20
XM_005255372.3:c.328_329insGGGAA	XP_005255429.1:p.Ile110ArgfsTer20
XM_005255373.3:c.79_80insGGGAA	XP_005255430.1:p.Ile27ArgfsTer20
XM_005255374.3:c.79_80insGGGAA	XP_005255431.1:p.Ile27ArgfsTer20
XM_011522538.1:c.328_329insGGGAA	XP_011520840.1:p.Ile110ArgfsTer20
XM_011522539.1:c.-29+4478_-29+4479insGGGAA	XP_011520841.1:n.-29+4478_-29+4479insGGGAA
XM_005255374.4:c.79_80insGGGAA	XP_005255431.1:p.Ile27ArgfsTer20
NM_000303.3:c.328_329insGGGAA MANE Select	NP_000294.1:p.Ile110ArgfsTer20