Canonical Allele Identifier: CA394689385

Gene: PMM2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8847736C>A , CM000678.2:g.8847736C>A	GRCh38
NC_000016.9:g.8941593C>A , CM000678.1:g.8941593C>A	GRCh37
NC_000016.8:g.8849094C>A	NCBI36
NG_009209.1:g.54924C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.3820C>A
ENST00000682393.1:c.*258-1633C>A	ENSP00000506774.1:n.*258-1633C>A
ENST00000683094.1:c.*262-1633C>A	ENSP00000508230.1:n.*262-1633C>A
ENST00000683274.1:c.*180-1633C>A	ENSP00000507262.1:n.*180-1633C>A
ENST00000683435.1:c.*548C>A	ENSP00000508092.1:n.*548C>A
ENST00000268261.9:c.652C>A MANE Select	ENSP00000268261.4:p.His218Asn
ENST00000268261.8:c.652C>A	ENSP00000268261.4:p.His218Asn
ENST00000562025.1:n.186C>A
ENST00000562318.5:c.*374C>A	ENSP00000454395.1:n.*374C>A
ENST00000565221.5:c.*270C>A	ENSP00000457932.1:n.*270C>A
ENST00000566540.5:c.*274C>A	ENSP00000454284.1:n.*274C>A
ENST00000566604.5:c.*192C>A	ENSP00000456774.1:n.*192C>A
ENST00000566983.5:c.571C>A	ENSP00000457956.1:p.His191Asn
ENST00000567697.1:n.3820C>A
ENST00000569958.5:c.379C>A	ENSP00000456302.1:p.His127Asn
ENST00000570076.5:c.*110C>A	ENSP00000456961.1:n.*110C>A
NM_000303.2:c.652C>A	NP_000294.1:p.His218Asn
XM_005255374.3:c.403C>A	XP_005255431.1:p.His135Asn
XM_011522538.1:c.640-7298C>A	XP_011520840.1:n.640-7298C>A
XM_005255374.4:c.403C>A	XP_005255431.1:p.His135Asn
NM_000303.3:c.652C>A MANE Select	NP_000294.1:p.His218Asn