Canonical Allele Identifier: CA2206133211

Gene: PMM2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8806381T= , CM000678.2:g.8806381T=	GRCh38
NC_000016.9:g.8900238T= , CM000678.1:g.8900238T=	GRCh37
NC_000016.8:g.8807739T=	NCBI36
NG_009209.1:g.13569T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682008.1:c.321T=	ENSP00000507849.1:p.Ile107=
ENST00000682393.1:c.178+4471T=	ENSP00000506774.1:n.178+4471T=
ENST00000683094.1:c.*43T=	ENSP00000508230.1:n.*43T=
ENST00000683274.1:c.321T=	ENSP00000507262.1:p.Ile107=
ENST00000683435.1:c.*317T=	ENSP00000508092.1:n.*317T=
ENST00000268261.9:c.321T= MANE Select	ENSP00000268261.4:p.Ile107=
ENST00000268261.8:c.321T=	ENSP00000268261.4:p.Ile107=
ENST00000562318.5:c.*43T=	ENSP00000454395.1:n.*43T=
ENST00000562448.1:n.285T=
ENST00000564030.5:n.383T=
ENST00000564069.1:c.292T=
ENST00000565221.5:c.178+4471T=	ENSP00000457932.1:n.178+4471T=
ENST00000565896.5:c.*145+3992T=	ENSP00000456024.1:n.*145+3992T=
ENST00000566540.5:c.*43T=	ENSP00000454284.1:n.*43T=
ENST00000566604.5:c.321T=	ENSP00000456774.1:p.Ile107=
ENST00000566983.5:c.240T=	ENSP00000457956.1:p.Ile80=
ENST00000568602.5:c.*174T=	ENSP00000455066.1:n.*174T=
ENST00000569958.5:c.178+4471T=	ENSP00000456302.1:n.178+4471T=
ENST00000570076.5:c.178+4471T=	ENSP00000456961.1:n.178+4471T=
ENST00000570134.5:c.*43T=	ENSP00000456275.1:n.*43T=
NM_000303.2:c.321T=	NP_000294.1:p.Ile107=
XM_005255372.3:c.321T=	XP_005255429.1:p.Ile107=
XM_005255373.3:c.72T=	XP_005255430.1:p.Ile24=
XM_005255374.3:c.72T=	XP_005255431.1:p.Ile24=
XM_011522538.1:c.321T=	XP_011520840.1:p.Ile107=
XM_011522539.1:c.-29+4471T=	XP_011520841.1:n.-29+4471T=
XM_005255374.4:c.72T=	XP_005255431.1:p.Ile24=
NM_000303.3:c.321T= MANE Select	NP_000294.1:p.Ile107=