Canonical Allele Identifier: CA493489353

Gene: PMM2

Linked Data

• MyVariant Identifiers: chr16:g.8941619C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8847762C>A , CM000678.2:g.8847762C>A	GRCh38
NC_000016.9:g.8941619C>A , CM000678.1:g.8941619C>A	GRCh37
NC_000016.8:g.8849120C>A	NCBI36
NG_009209.1:g.54950C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.3846C>A
ENST00000682393.1:c.*258-1607C>A	ENSP00000506774.1:n.*258-1607C>A
ENST00000683094.1:c.*262-1607C>A	ENSP00000508230.1:n.*262-1607C>A
ENST00000683274.1:c.*180-1607C>A	ENSP00000507262.1:n.*180-1607C>A
ENST00000683435.1:c.*574C>A	ENSP00000508092.1:n.*574C>A
ENST00000268261.9:c.678C>A MANE Select	ENSP00000268261.4:p.Thr226=
ENST00000268261.8:c.678C>A	ENSP00000268261.4:p.Thr226=
ENST00000562025.1:n.212C>A
ENST00000562318.5:c.*400C>A	ENSP00000454395.1:n.*400C>A
ENST00000565221.5:c.*296C>A	ENSP00000457932.1:n.*296C>A
ENST00000566540.5:c.*300C>A	ENSP00000454284.1:n.*300C>A
ENST00000566604.5:c.*218C>A	ENSP00000456774.1:n.*218C>A
ENST00000566983.5:c.597C>A	ENSP00000457956.1:p.Thr199=
ENST00000567697.1:n.3846C>A
ENST00000569958.5:c.405C>A	ENSP00000456302.1:p.Thr135=
ENST00000570076.5:c.*136C>A	ENSP00000456961.1:n.*136C>A
NM_000303.2:c.678C>A	NP_000294.1:p.Thr226=
XM_005255374.3:c.429C>A	XP_005255431.1:p.Thr143=
XM_011522538.1:c.640-7272C>A	XP_011520840.1:n.640-7272C>A
XM_005255374.4:c.429C>A	XP_005255431.1:p.Thr143=
NM_000303.3:c.678C>A MANE Select	NP_000294.1:p.Thr226=