Canonical Allele Identifier: CA493489360

Gene: PMM2

Linked Data

• MyVariant Identifiers: chr16:g.8941631C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8847774C>G , CM000678.2:g.8847774C>G	GRCh38
NC_000016.9:g.8941631C>G , CM000678.1:g.8941631C>G	GRCh37
NC_000016.8:g.8849132C>G	NCBI36
NG_009209.1:g.54962C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.3858C>G
ENST00000682393.1:c.*258-1595C>G	ENSP00000506774.1:n.*258-1595C>G
ENST00000683094.1:c.*262-1595C>G	ENSP00000508230.1:n.*262-1595C>G
ENST00000683274.1:c.*180-1595C>G	ENSP00000507262.1:n.*180-1595C>G
ENST00000683435.1:c.*586C>G	ENSP00000508092.1:n.*586C>G
ENST00000268261.9:c.690C>G MANE Select	ENSP00000268261.4:p.Ser230=
ENST00000268261.8:c.690C>G	ENSP00000268261.4:p.Ser230=
ENST00000562025.1:n.224C>G
ENST00000562318.5:c.*412C>G	ENSP00000454395.1:n.*412C>G
ENST00000565221.5:c.*308C>G	ENSP00000457932.1:n.*308C>G
ENST00000566540.5:c.*312C>G	ENSP00000454284.1:n.*312C>G
ENST00000566604.5:c.*230C>G	ENSP00000456774.1:n.*230C>G
ENST00000566983.5:c.609C>G	ENSP00000457956.1:p.Ser203=
ENST00000567697.1:n.3858C>G
ENST00000569958.5:c.417C>G	ENSP00000456302.1:p.Ser139=
ENST00000570076.5:c.*148C>G	ENSP00000456961.1:n.*148C>G
NM_000303.2:c.690C>G	NP_000294.1:p.Ser230=
XM_005255374.3:c.441C>G	XP_005255431.1:p.Ser147=
XM_011522538.1:c.640-7260C>G	XP_011520840.1:n.640-7260C>G
XM_005255374.4:c.441C>G	XP_005255431.1:p.Ser147=
NM_000303.3:c.690C>G MANE Select	NP_000294.1:p.Ser230=