Canonical Allele Identifier: CA493489378

Gene: PMM2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8847801G>A , CM000678.2:g.8847801G>A	GRCh38
NC_000016.9:g.8941658G>A , CM000678.1:g.8941658G>A	GRCh37
NC_000016.8:g.8849159G>A	NCBI36
NG_009209.1:g.54989G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.3885G>A
ENST00000682393.1:c.*258-1568G>A	ENSP00000506774.1:n.*258-1568G>A
ENST00000683094.1:c.*262-1568G>A	ENSP00000508230.1:n.*262-1568G>A
ENST00000683274.1:c.*180-1568G>A	ENSP00000507262.1:n.*180-1568G>A
ENST00000683435.1:c.*613G>A	ENSP00000508092.1:n.*613G>A
ENST00000268261.9:c.717G>A MANE Select	ENSP00000268261.4:p.Arg239=
ENST00000268261.8:c.717G>A	ENSP00000268261.4:p.Arg239=
ENST00000562025.1:n.251G>A
ENST00000562318.5:c.*439G>A	ENSP00000454395.1:n.*439G>A
ENST00000565221.5:c.*335G>A	ENSP00000457932.1:n.*335G>A
ENST00000566540.5:c.*339G>A	ENSP00000454284.1:n.*339G>A
ENST00000566604.5:c.*257G>A	ENSP00000456774.1:n.*257G>A
ENST00000566983.5:c.636G>A	ENSP00000457956.1:p.Arg212=
ENST00000567697.1:n.3885G>A
ENST00000569958.5:c.444G>A	ENSP00000456302.1:p.Arg148=
ENST00000570076.5:c.*175G>A	ENSP00000456961.1:n.*175G>A
NM_000303.2:c.717G>A	NP_000294.1:p.Arg239=
XM_005255374.3:c.468G>A	XP_005255431.1:p.Arg156=
XM_011522538.1:c.640-7233G>A	XP_011520840.1:n.640-7233G>A
XM_005255374.4:c.468G>A	XP_005255431.1:p.Arg156=
NM_000303.3:c.717G>A MANE Select	NP_000294.1:p.Arg239=