Canonical Allele Identifier: CA2999504730

Gene: PMM2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8847797dup , CM000678.2:g.8847797dup	GRCh38
NC_000016.9:g.8941654dup , CM000678.1:g.8941654dup	GRCh37
NC_000016.8:g.8849155dup	NCBI36
NG_009209.1:g.54985dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.3881dup
ENST00000682393.1:c.*258-1572dup	ENSP00000506774.1:n.*258-1572dup
ENST00000683094.1:c.*262-1572dup	ENSP00000508230.1:n.*262-1572dup
ENST00000683274.1:c.*180-1572dup	ENSP00000507262.1:n.*180-1572dup
ENST00000683435.1:c.*609dup	ENSP00000508092.1:n.*609dup
ENST00000268261.9:c.713dup MANE Select	ENSP00000268261.4:p.Arg239GlnfsTer4
ENST00000268261.8:c.713dup	ENSP00000268261.4:p.Arg239GlnfsTer4
ENST00000562025.1:n.247dup
ENST00000562318.5:c.*435dup	ENSP00000454395.1:n.*435dup
ENST00000565221.5:c.*331dup	ENSP00000457932.1:n.*331dup
ENST00000566540.5:c.*335dup	ENSP00000454284.1:n.*335dup
ENST00000566604.5:c.*253dup	ENSP00000456774.1:n.*253dup
ENST00000566983.5:c.632dup	ENSP00000457956.1:p.Arg212GlnfsTer4
ENST00000567697.1:n.3881dup
ENST00000569958.5:c.440dup	ENSP00000456302.1:p.Arg148GlnfsTer4
ENST00000570076.5:c.*171dup	ENSP00000456961.1:n.*171dup
NM_000303.2:c.713dup	NP_000294.1:p.Arg239GlnfsTer4
XM_005255374.3:c.464dup	XP_005255431.1:p.Arg156GlnfsTer4
XM_011522538.1:c.640-7237dup	XP_011520840.1:n.640-7237dup
XM_005255374.4:c.464dup	XP_005255431.1:p.Arg156GlnfsTer4
NM_000303.3:c.713dup MANE Select	NP_000294.1:p.Arg239GlnfsTer4