Canonical Allele Identifier: CA2206158231

Gene: PMM2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8847995C= , CM000678.2:g.8847995C=	GRCh38
NC_000016.9:g.8941852C= , CM000678.1:g.8941852C=	GRCh37
NC_000016.8:g.8849353C=	NCBI36
NG_009209.1:g.55183C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.4079C=
ENST00000682393.1:c.*258-1374C=	ENSP00000506774.1:n.*258-1374C=
ENST00000683094.1:c.*262-1374C=	ENSP00000508230.1:n.*262-1374C=
ENST00000683274.1:c.*180-1374C=	ENSP00000507262.1:n.*180-1374C=
ENST00000268261.9:c.*170C= MANE Select	ENSP00000268261.4:n.*170C=
ENST00000268261.8:c.*170C=	ENSP00000268261.4:n.*170C=
ENST00000562025.1:n.445C=
ENST00000562318.5:c.*633C=	ENSP00000454395.1:n.*633C=
ENST00000565221.5:c.*529C=	ENSP00000457932.1:n.*529C=
ENST00000566540.5:c.*533C=	ENSP00000454284.1:n.*533C=
ENST00000566604.5:c.*451C=	ENSP00000456774.1:n.*451C=
ENST00000567697.1:n.4079C=
ENST00000569958.5:c.*170C=	ENSP00000456302.1:n.*170C=
ENST00000570076.5:c.*369C=	ENSP00000456961.1:n.*369C=
NM_000303.2:c.*170C=	NP_000294.1:n.*170C=
XM_005255374.3:c.*170C=	XP_005255431.1:n.*170C=
XM_011522538.1:c.640-7039C=	XP_011520840.1:n.640-7039C=
XM_005255374.4:c.*170C=	XP_005255431.1:n.*170C=
NM_000303.3:c.*170C= MANE Select	NP_000294.1:n.*170C=