Canonical Allele Identifier: CA2206158245

Gene: PMM2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8848020A= , CM000678.2:g.8848020A=	GRCh38
NC_000016.9:g.8941877A= , CM000678.1:g.8941877A=	GRCh37
NC_000016.8:g.8849378A=	NCBI36
NG_009209.1:g.55208A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.4104A=
ENST00000682393.1:c.*258-1349A=	ENSP00000506774.1:n.*258-1349A=
ENST00000683094.1:c.*262-1349A=	ENSP00000508230.1:n.*262-1349A=
ENST00000683274.1:c.*180-1349A=	ENSP00000507262.1:n.*180-1349A=
ENST00000268261.9:c.*195A= MANE Select	ENSP00000268261.4:n.*195A=
ENST00000268261.8:c.*195A=	ENSP00000268261.4:n.*195A=
ENST00000562025.1:n.470A=
ENST00000562318.5:c.*658A=	ENSP00000454395.1:n.*658A=
ENST00000565221.5:c.*554A=	ENSP00000457932.1:n.*554A=
ENST00000566540.5:c.*558A=	ENSP00000454284.1:n.*558A=
ENST00000566604.5:c.*476A=	ENSP00000456774.1:n.*476A=
ENST00000567697.1:n.4104A=
ENST00000569958.5:c.*195A=	ENSP00000456302.1:n.*195A=
ENST00000570076.5:c.*394A=	ENSP00000456961.1:n.*394A=
NM_000303.2:c.*195A=	NP_000294.1:n.*195A=
XM_005255374.3:c.*195A=	XP_005255431.1:n.*195A=
XM_011522538.1:c.640-7014A=	XP_011520840.1:n.640-7014A=
XM_005255374.4:c.*195A=	XP_005255431.1:n.*195A=
NM_000303.3:c.*195A= MANE Select	NP_000294.1:n.*195A=