Canonical Allele Identifier: CA2631646133

Gene: PMM2

Linked Data

• gnomAD v4: 16-8847943-G-GC

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8847944dup , CM000678.2:g.8847944dup	GRCh38
NC_000016.9:g.8941801dup , CM000678.1:g.8941801dup	GRCh37
NC_000016.8:g.8849302dup	NCBI36
NG_009209.1:g.55132dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.4028dup
ENST00000682393.1:c.*258-1425dup	ENSP00000506774.1:n.*258-1425dup
ENST00000683094.1:c.*262-1425dup	ENSP00000508230.1:n.*262-1425dup
ENST00000683274.1:c.*180-1425dup	ENSP00000507262.1:n.*180-1425dup
ENST00000683435.1:c.*756dup	ENSP00000508092.1:n.*756dup
ENST00000268261.9:c.*119dup MANE Select	ENSP00000268261.4:n.*119dup
ENST00000268261.8:c.*119dup	ENSP00000268261.4:n.*119dup
ENST00000562025.1:n.394dup
ENST00000562318.5:c.*582dup	ENSP00000454395.1:n.*582dup
ENST00000565221.5:c.*478dup	ENSP00000457932.1:n.*478dup
ENST00000566540.5:c.*482dup	ENSP00000454284.1:n.*482dup
ENST00000566604.5:c.*400dup	ENSP00000456774.1:n.*400dup
ENST00000567697.1:n.4028dup
ENST00000569958.5:c.*119dup	ENSP00000456302.1:n.*119dup
ENST00000570076.5:c.*318dup	ENSP00000456961.1:n.*318dup
NM_000303.2:c.*119dup	NP_000294.1:n.*119dup
XM_005255374.3:c.*119dup	XP_005255431.1:n.*119dup
XM_011522538.1:c.640-7090dup	XP_011520840.1:n.640-7090dup
XM_005255374.4:c.*119dup	XP_005255431.1:n.*119dup
NM_000303.3:c.*119dup MANE Select	NP_000294.1:n.*119dup