Canonical Allele Identifier: CA2529370570

Gene: PMM2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8848035G>A , CM000678.2:g.8848035G>A	GRCh38
NC_000016.9:g.8941892G>A , CM000678.1:g.8941892G>A	GRCh37
NC_000016.8:g.8849393G>A	NCBI36
NG_009209.1:g.55223G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.4119G>A
ENST00000682393.1:c.*258-1334G>A	ENSP00000506774.1:n.*258-1334G>A
ENST00000683094.1:c.*262-1334G>A	ENSP00000508230.1:n.*262-1334G>A
ENST00000683274.1:c.*180-1334G>A	ENSP00000507262.1:n.*180-1334G>A
ENST00000268261.9:c.*210G>A MANE Select	ENSP00000268261.4:n.*210G>A
ENST00000268261.8:c.*210G>A	ENSP00000268261.4:n.*210G>A
ENST00000562025.1:n.485G>A
ENST00000562318.5:c.*673G>A	ENSP00000454395.1:n.*673G>A
ENST00000566540.5:c.*573G>A	ENSP00000454284.1:n.*573G>A
ENST00000566604.5:c.*491G>A	ENSP00000456774.1:n.*491G>A
ENST00000567697.1:n.4119G>A
ENST00000569958.5:c.*210G>A	ENSP00000456302.1:n.*210G>A
ENST00000570076.5:c.*409G>A	ENSP00000456961.1:n.*409G>A
NM_000303.2:c.*210G>A	NP_000294.1:n.*210G>A
XM_005255374.3:c.*210G>A	XP_005255431.1:n.*210G>A
XM_011522538.1:c.640-6999G>A	XP_011520840.1:n.640-6999G>A
XM_005255374.4:c.*210G>A	XP_005255431.1:n.*210G>A
NM_000303.3:c.*210G>A MANE Select	NP_000294.1:n.*210G>A