Canonical Allele Identifier: CA2206135692

Gene: PMM2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8811084C= , CM000678.2:g.8811084C=	GRCh38
NC_000016.9:g.8904941C= , CM000678.1:g.8904941C=	GRCh37
NC_000016.8:g.8812442C=	NCBI36
NG_009209.1:g.18272C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.3521C=
ENST00000682008.1:c.353C=	ENSP00000507849.1:p.Thr118=
ENST00000682393.1:c.184C=	ENSP00000506774.1:p.Leu62=
ENST00000683094.1:c.*70-554C=	ENSP00000508230.1:n.*70-554C=
ENST00000683274.1:c.348-554C=	ENSP00000507262.1:n.348-554C=
ENST00000683435.1:c.*344-554C=	ENSP00000508092.1:n.*344-554C=
ENST00000268261.9:c.353C= MANE Select	ENSP00000268261.4:p.Thr118=
ENST00000268261.8:c.353C=	ENSP00000268261.4:p.Thr118=
ENST00000562318.5:c.*75C=	ENSP00000454395.1:n.*75C=
ENST00000564069.1:c.324C=
ENST00000565221.5:c.184C=	ENSP00000457932.1:p.Leu62=
ENST00000565896.5:c.*151C=	ENSP00000456024.1:n.*151C=
ENST00000566540.5:c.*70-554C=	ENSP00000454284.1:n.*70-554C=
ENST00000566604.5:c.348-554C=	ENSP00000456774.1:n.348-554C=
ENST00000566983.5:c.272C=	ENSP00000457956.1:p.Thr91=
ENST00000567697.1:n.3521C=
ENST00000568602.5:c.*206C=	ENSP00000455066.1:n.*206C=
ENST00000569958.5:c.179-558C=	ENSP00000456302.1:n.179-558C=
ENST00000570076.5:c.179-554C=	ENSP00000456961.1:n.179-554C=
ENST00000570134.5:c.*70-554C=	ENSP00000456275.1:n.*70-554C=
NM_000303.2:c.353C=	NP_000294.1:p.Thr118=
XM_005255372.3:c.353C=	XP_005255429.1:p.Thr118=
XM_005255373.3:c.104C=	XP_005255430.1:p.Thr35=
XM_005255374.3:c.104C=	XP_005255431.1:p.Thr35=
XM_011522538.1:c.353C=	XP_011520840.1:p.Thr118=
XM_011522539.1:c.-23C=	XP_011520841.1:n.-23C=
XM_005255374.4:c.104C=	XP_005255431.1:p.Thr35=
NM_000303.3:c.353C= MANE Select	NP_000294.1:p.Thr118=