Canonical Allele Identifier: CA2206158057

Gene: PMM2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8847737A= , CM000678.2:g.8847737A=	GRCh38
NC_000016.9:g.8941594A= , CM000678.1:g.8941594A=	GRCh37
NC_000016.8:g.8849095A=	NCBI36
NG_009209.1:g.54925A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.3821A=
ENST00000682393.1:c.*258-1632A=	ENSP00000506774.1:n.*258-1632A=
ENST00000683094.1:c.*262-1632A=	ENSP00000508230.1:n.*262-1632A=
ENST00000683274.1:c.*180-1632A=	ENSP00000507262.1:n.*180-1632A=
ENST00000683435.1:c.*549A=	ENSP00000508092.1:n.*549A=
ENST00000268261.9:c.653A= MANE Select	ENSP00000268261.4:p.His218=
ENST00000268261.8:c.653A=	ENSP00000268261.4:p.His218=
ENST00000562025.1:n.187A=
ENST00000562318.5:c.*375A=	ENSP00000454395.1:n.*375A=
ENST00000565221.5:c.*271A=	ENSP00000457932.1:n.*271A=
ENST00000566540.5:c.*275A=	ENSP00000454284.1:n.*275A=
ENST00000566604.5:c.*193A=	ENSP00000456774.1:n.*193A=
ENST00000566983.5:c.572A=	ENSP00000457956.1:p.His191=
ENST00000567697.1:n.3821A=
ENST00000569958.5:c.380A=	ENSP00000456302.1:p.His127=
ENST00000570076.5:c.*111A=	ENSP00000456961.1:n.*111A=
NM_000303.2:c.653A=	NP_000294.1:p.His218=
XM_005255374.3:c.404A=	XP_005255431.1:p.His135=
XM_011522538.1:c.640-7297A=	XP_011520840.1:n.640-7297A=
XM_005255374.4:c.404A=	XP_005255431.1:p.His135=
NM_000303.3:c.653A= MANE Select	NP_000294.1:p.His218=