Canonical Allele Identifier: CA2631646183

Gene: PMM2

Linked Data

• gnomAD v4: 16-8848020-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8848020A>G , CM000678.2:g.8848020A>G	GRCh38
NC_000016.9:g.8941877A>G , CM000678.1:g.8941877A>G	GRCh37
NC_000016.8:g.8849378A>G	NCBI36
NG_009209.1:g.55208A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.4104A>G
ENST00000682393.1:c.*258-1349A>G	ENSP00000506774.1:n.*258-1349A>G
ENST00000683094.1:c.*262-1349A>G	ENSP00000508230.1:n.*262-1349A>G
ENST00000683274.1:c.*180-1349A>G	ENSP00000507262.1:n.*180-1349A>G
ENST00000268261.9:c.*195A>G MANE Select	ENSP00000268261.4:n.*195A>G
ENST00000268261.8:c.*195A>G	ENSP00000268261.4:n.*195A>G
ENST00000562025.1:n.470A>G
ENST00000562318.5:c.*658A>G	ENSP00000454395.1:n.*658A>G
ENST00000565221.5:c.*554A>G	ENSP00000457932.1:n.*554A>G
ENST00000566540.5:c.*558A>G	ENSP00000454284.1:n.*558A>G
ENST00000566604.5:c.*476A>G	ENSP00000456774.1:n.*476A>G
ENST00000567697.1:n.4104A>G
ENST00000569958.5:c.*195A>G	ENSP00000456302.1:n.*195A>G
ENST00000570076.5:c.*394A>G	ENSP00000456961.1:n.*394A>G
NM_000303.2:c.*195A>G	NP_000294.1:n.*195A>G
XM_005255374.3:c.*195A>G	XP_005255431.1:n.*195A>G
XM_011522538.1:c.640-7014A>G	XP_011520840.1:n.640-7014A>G
XM_005255374.4:c.*195A>G	XP_005255431.1:n.*195A>G
NM_000303.3:c.*195A>G MANE Select	NP_000294.1:n.*195A>G