Canonical Allele Identifier: CA2206158223

Gene: PMM2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8847983G= , CM000678.2:g.8847983G=	GRCh38
NC_000016.9:g.8941840G= , CM000678.1:g.8941840G=	GRCh37
NC_000016.8:g.8849341G=	NCBI36
NG_009209.1:g.55171G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.4067G=
ENST00000682393.1:c.*258-1386G=	ENSP00000506774.1:n.*258-1386G=
ENST00000683094.1:c.*262-1386G=	ENSP00000508230.1:n.*262-1386G=
ENST00000683274.1:c.*180-1386G=	ENSP00000507262.1:n.*180-1386G=
ENST00000268261.9:c.*158G= MANE Select	ENSP00000268261.4:n.*158G=
ENST00000268261.8:c.*158G=	ENSP00000268261.4:n.*158G=
ENST00000562025.1:n.433G=
ENST00000562318.5:c.*621G=	ENSP00000454395.1:n.*621G=
ENST00000565221.5:c.*517G=	ENSP00000457932.1:n.*517G=
ENST00000566540.5:c.*521G=	ENSP00000454284.1:n.*521G=
ENST00000566604.5:c.*439G=	ENSP00000456774.1:n.*439G=
ENST00000567697.1:n.4067G=
ENST00000569958.5:c.*158G=	ENSP00000456302.1:n.*158G=
ENST00000570076.5:c.*357G=	ENSP00000456961.1:n.*357G=
NM_000303.2:c.*158G=	NP_000294.1:n.*158G=
XM_005255374.3:c.*158G=	XP_005255431.1:n.*158G=
XM_011522538.1:c.640-7051G=	XP_011520840.1:n.640-7051G=
XM_005255374.4:c.*158G=	XP_005255431.1:n.*158G=
NM_000303.3:c.*158G= MANE Select	NP_000294.1:n.*158G=