Canonical Allele Identifier: CA2206158164

Gene: PMM2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8847891G= , CM000678.2:g.8847891G=	GRCh38
NC_000016.9:g.8941748G= , CM000678.1:g.8941748G=	GRCh37
NC_000016.8:g.8849249G=	NCBI36
NG_009209.1:g.55079G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.3975G=
ENST00000682393.1:c.*258-1478G=	ENSP00000506774.1:n.*258-1478G=
ENST00000683094.1:c.*262-1478G=	ENSP00000508230.1:n.*262-1478G=
ENST00000683274.1:c.*180-1478G=	ENSP00000507262.1:n.*180-1478G=
ENST00000683435.1:c.*703G=	ENSP00000508092.1:n.*703G=
ENST00000268261.9:c.*66G= MANE Select	ENSP00000268261.4:n.*66G=
ENST00000268261.8:c.*66G=	ENSP00000268261.4:n.*66G=
ENST00000562025.1:n.341G=
ENST00000562318.5:c.*529G=	ENSP00000454395.1:n.*529G=
ENST00000565221.5:c.*425G=	ENSP00000457932.1:n.*425G=
ENST00000566540.5:c.*429G=	ENSP00000454284.1:n.*429G=
ENST00000566604.5:c.*347G=	ENSP00000456774.1:n.*347G=
ENST00000567697.1:n.3975G=
ENST00000569958.5:c.*66G=	ENSP00000456302.1:n.*66G=
ENST00000570076.5:c.*265G=	ENSP00000456961.1:n.*265G=
NM_000303.2:c.*66G=	NP_000294.1:n.*66G=
XM_005255374.3:c.*66G=	XP_005255431.1:n.*66G=
XM_011522538.1:c.640-7143G=	XP_011520840.1:n.640-7143G=
XM_005255374.4:c.*66G=	XP_005255431.1:n.*66G=
NM_000303.3:c.*66G= MANE Select	NP_000294.1:n.*66G=