Canonical Allele Identifier: CA2206158052

Gene: PMM2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8847731A= , CM000678.2:g.8847731A=	GRCh38
NC_000016.9:g.8941588A= , CM000678.1:g.8941588A=	GRCh37
NC_000016.8:g.8849089A=	NCBI36
NG_009209.1:g.54919A=

Transcript Alleles

HGVS	Amino-acid Change
NM_000303.3:c.647A= MANE Select	NP_000294.1:p.Asn216=
ENST00000268261.9:c.647A= MANE Select	ENSP00000268261.4:p.Asn216=
NM_000303.2:c.647A=	NP_000294.1:p.Asn216=
ENST00000268261.8:c.647A=	ENSP00000268261.4:p.Asn216=
ENST00000562025.1:n.181A=
ENST00000562318.5:c.*369A=	ENSP00000454395.1:n.*369A=
ENST00000565221.5:c.*265A=	ENSP00000457932.1:n.*265A=
ENST00000566540.5:c.*269A=	ENSP00000454284.1:n.*269A=
ENST00000566604.5:c.*187A=	ENSP00000456774.1:n.*187A=
ENST00000566983.5:c.566A=	ENSP00000457956.1:p.Asn189=
ENST00000567697.1:n.3815A=
ENST00000567697.2:n.3815A=
ENST00000569958.5:c.374A=	ENSP00000456302.1:p.Asn125=
ENST00000570076.5:c.*105A=	ENSP00000456961.1:n.*105A=
ENST00000682393.1:c.*258-1638A=	ENSP00000506774.1:n.*258-1638A=
ENST00000683094.1:c.*262-1638A=	ENSP00000508230.1:n.*262-1638A=
ENST00000683274.1:c.*180-1638A=	ENSP00000507262.1:n.*180-1638A=
ENST00000683435.1:c.*543A=	ENSP00000508092.1:n.*543A=
XM_005255374.3:c.398A=	XP_005255431.1:p.Asn133=
XM_005255374.4:c.398A=	XP_005255431.1:p.Asn133=
XM_011522538.1:c.640-7303A=	XP_011520840.1:n.640-7303A=