Canonical Allele Identifier: CA394689468

Gene: PMM2

Linked Data

• MyVariant Identifiers: chr16:g.8941612C>A (hg19) ; chr16:g.8847755C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8847755C>A , CM000678.2:g.8847755C>A	GRCh38
NC_000016.9:g.8941612C>A , CM000678.1:g.8941612C>A	GRCh37
NC_000016.8:g.8849113C>A	NCBI36
NG_009209.1:g.54943C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.3839C>A
ENST00000682393.1:c.*258-1614C>A	ENSP00000506774.1:n.*258-1614C>A
ENST00000683094.1:c.*262-1614C>A	ENSP00000508230.1:n.*262-1614C>A
ENST00000683274.1:c.*180-1614C>A	ENSP00000507262.1:n.*180-1614C>A
ENST00000683435.1:c.*567C>A	ENSP00000508092.1:n.*567C>A
ENST00000268261.9:c.671C>A MANE Select	ENSP00000268261.4:p.Pro224His
ENST00000268261.8:c.671C>A	ENSP00000268261.4:p.Pro224His
ENST00000562025.1:n.205C>A
ENST00000562318.5:c.*393C>A	ENSP00000454395.1:n.*393C>A
ENST00000565221.5:c.*289C>A	ENSP00000457932.1:n.*289C>A
ENST00000566540.5:c.*293C>A	ENSP00000454284.1:n.*293C>A
ENST00000566604.5:c.*211C>A	ENSP00000456774.1:n.*211C>A
ENST00000566983.5:c.590C>A	ENSP00000457956.1:p.Pro197His
ENST00000567697.1:n.3839C>A
ENST00000569958.5:c.398C>A	ENSP00000456302.1:p.Pro133His
ENST00000570076.5:c.*129C>A	ENSP00000456961.1:n.*129C>A
NM_000303.2:c.671C>A	NP_000294.1:p.Pro224His
XM_005255374.3:c.422C>A	XP_005255431.1:p.Pro141His
XM_011522538.1:c.640-7279C>A	XP_011520840.1:n.640-7279C>A
XM_005255374.4:c.422C>A	XP_005255431.1:p.Pro141His
NM_000303.3:c.671C>A MANE Select	NP_000294.1:p.Pro224His