Canonical Allele Identifier: CA2206158217

Gene: PMM2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8847975C= , CM000678.2:g.8847975C=	GRCh38
NC_000016.9:g.8941832C= , CM000678.1:g.8941832C=	GRCh37
NC_000016.8:g.8849333C=	NCBI36
NG_009209.1:g.55163C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.4059C=
ENST00000682393.1:c.*258-1394C=	ENSP00000506774.1:n.*258-1394C=
ENST00000683094.1:c.*262-1394C=	ENSP00000508230.1:n.*262-1394C=
ENST00000683274.1:c.*180-1394C=	ENSP00000507262.1:n.*180-1394C=
ENST00000268261.9:c.*150C= MANE Select	ENSP00000268261.4:n.*150C=
ENST00000268261.8:c.*150C=	ENSP00000268261.4:n.*150C=
ENST00000562025.1:n.425C=
ENST00000562318.5:c.*613C=	ENSP00000454395.1:n.*613C=
ENST00000565221.5:c.*509C=	ENSP00000457932.1:n.*509C=
ENST00000566540.5:c.*513C=	ENSP00000454284.1:n.*513C=
ENST00000566604.5:c.*431C=	ENSP00000456774.1:n.*431C=
ENST00000567697.1:n.4059C=
ENST00000569958.5:c.*150C=	ENSP00000456302.1:n.*150C=
ENST00000570076.5:c.*349C=	ENSP00000456961.1:n.*349C=
NM_000303.2:c.*150C=	NP_000294.1:n.*150C=
XM_005255374.3:c.*150C=	XP_005255431.1:n.*150C=
XM_011522538.1:c.640-7059C=	XP_011520840.1:n.640-7059C=
XM_005255374.4:c.*150C=	XP_005255431.1:n.*150C=
NM_000303.3:c.*150C= MANE Select	NP_000294.1:n.*150C=