Canonical Allele Identifier: CA2631646175

Gene: PMM2

Linked Data

• gnomAD v4: 16-8848014-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8848014C>G , CM000678.2:g.8848014C>G	GRCh38
NC_000016.9:g.8941871C>G , CM000678.1:g.8941871C>G	GRCh37
NC_000016.8:g.8849372C>G	NCBI36
NG_009209.1:g.55202C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.4098C>G
ENST00000682393.1:c.*258-1355C>G	ENSP00000506774.1:n.*258-1355C>G
ENST00000683094.1:c.*262-1355C>G	ENSP00000508230.1:n.*262-1355C>G
ENST00000683274.1:c.*180-1355C>G	ENSP00000507262.1:n.*180-1355C>G
ENST00000268261.9:c.*189C>G MANE Select	ENSP00000268261.4:n.*189C>G
ENST00000268261.8:c.*189C>G	ENSP00000268261.4:n.*189C>G
ENST00000562025.1:n.464C>G
ENST00000562318.5:c.*652C>G	ENSP00000454395.1:n.*652C>G
ENST00000565221.5:c.*548C>G	ENSP00000457932.1:n.*548C>G
ENST00000566540.5:c.*552C>G	ENSP00000454284.1:n.*552C>G
ENST00000566604.5:c.*470C>G	ENSP00000456774.1:n.*470C>G
ENST00000567697.1:n.4098C>G
ENST00000569958.5:c.*189C>G	ENSP00000456302.1:n.*189C>G
ENST00000570076.5:c.*388C>G	ENSP00000456961.1:n.*388C>G
NM_000303.2:c.*189C>G	NP_000294.1:n.*189C>G
XM_005255374.3:c.*189C>G	XP_005255431.1:n.*189C>G
XM_011522538.1:c.640-7020C>G	XP_011520840.1:n.640-7020C>G
XM_005255374.4:c.*189C>G	XP_005255431.1:n.*189C>G
NM_000303.3:c.*189C>G MANE Select	NP_000294.1:n.*189C>G