Canonical Allele Identifier: CA394689584

Gene: PMM2

Linked Data

• MyVariant Identifiers: chr16:g.8941633T>A (hg19) ; chr16:g.8847776T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8847776T>A , CM000678.2:g.8847776T>A	GRCh38
NC_000016.9:g.8941633T>A , CM000678.1:g.8941633T>A	GRCh37
NC_000016.8:g.8849134T>A	NCBI36
NG_009209.1:g.54964T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.3860T>A
ENST00000682393.1:c.*258-1593T>A	ENSP00000506774.1:n.*258-1593T>A
ENST00000683094.1:c.*262-1593T>A	ENSP00000508230.1:n.*262-1593T>A
ENST00000683274.1:c.*180-1593T>A	ENSP00000507262.1:n.*180-1593T>A
ENST00000683435.1:c.*588T>A	ENSP00000508092.1:n.*588T>A
ENST00000268261.9:c.692T>A MANE Select	ENSP00000268261.4:p.Val231Glu
ENST00000268261.8:c.692T>A	ENSP00000268261.4:p.Val231Glu
ENST00000562025.1:n.226T>A
ENST00000562318.5:c.*414T>A	ENSP00000454395.1:n.*414T>A
ENST00000565221.5:c.*310T>A	ENSP00000457932.1:n.*310T>A
ENST00000566540.5:c.*314T>A	ENSP00000454284.1:n.*314T>A
ENST00000566604.5:c.*232T>A	ENSP00000456774.1:n.*232T>A
ENST00000566983.5:c.611T>A	ENSP00000457956.1:p.Val204Glu
ENST00000567697.1:n.3860T>A
ENST00000569958.5:c.419T>A	ENSP00000456302.1:p.Val140Glu
ENST00000570076.5:c.*150T>A	ENSP00000456961.1:n.*150T>A
NM_000303.2:c.692T>A	NP_000294.1:p.Val231Glu
XM_005255374.3:c.443T>A	XP_005255431.1:p.Val148Glu
XM_011522538.1:c.640-7258T>A	XP_011520840.1:n.640-7258T>A
XM_005255374.4:c.443T>A	XP_005255431.1:p.Val148Glu
NM_000303.3:c.692T>A MANE Select	NP_000294.1:p.Val231Glu