Canonical Allele Identifier: CA2631646188

Gene: PMM2

Linked Data

• gnomAD v4: 16-8848024-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8848024A>G , CM000678.2:g.8848024A>G	GRCh38
NC_000016.9:g.8941881A>G , CM000678.1:g.8941881A>G	GRCh37
NC_000016.8:g.8849382A>G	NCBI36
NG_009209.1:g.55212A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.4108A>G
ENST00000682393.1:c.*258-1345A>G	ENSP00000506774.1:n.*258-1345A>G
ENST00000683094.1:c.*262-1345A>G	ENSP00000508230.1:n.*262-1345A>G
ENST00000683274.1:c.*180-1345A>G	ENSP00000507262.1:n.*180-1345A>G
ENST00000268261.9:c.*199A>G MANE Select	ENSP00000268261.4:n.*199A>G
ENST00000268261.8:c.*199A>G	ENSP00000268261.4:n.*199A>G
ENST00000562025.1:n.474A>G
ENST00000562318.5:c.*662A>G	ENSP00000454395.1:n.*662A>G
ENST00000565221.5:c.*558A>G	ENSP00000457932.1:n.*558A>G
ENST00000566540.5:c.*562A>G	ENSP00000454284.1:n.*562A>G
ENST00000566604.5:c.*480A>G	ENSP00000456774.1:n.*480A>G
ENST00000567697.1:n.4108A>G
ENST00000569958.5:c.*199A>G	ENSP00000456302.1:n.*199A>G
ENST00000570076.5:c.*398A>G	ENSP00000456961.1:n.*398A>G
NM_000303.2:c.*199A>G	NP_000294.1:n.*199A>G
XM_005255374.3:c.*199A>G	XP_005255431.1:n.*199A>G
XM_011522538.1:c.640-7010A>G	XP_011520840.1:n.640-7010A>G
XM_005255374.4:c.*199A>G	XP_005255431.1:n.*199A>G
NM_000303.3:c.*199A>G MANE Select	NP_000294.1:n.*199A>G