Canonical Allele Identifier: CA2206135596

Gene: PMM2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8810931G= , CM000678.2:g.8810931G=	GRCh38
NC_000016.9:g.8904788G= , CM000678.1:g.8904788G=	GRCh37
NC_000016.8:g.8812289G=	NCBI36
NG_009209.1:g.18119G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.3368G=
ENST00000682008.1:c.348-148G=	ENSP00000507849.1:n.348-148G=
ENST00000682393.1:c.179-148G=	ENSP00000506774.1:n.179-148G=
ENST00000683094.1:c.*70-707G=	ENSP00000508230.1:n.*70-707G=
ENST00000683274.1:c.348-707G=	ENSP00000507262.1:n.348-707G=
ENST00000683435.1:c.*344-707G=	ENSP00000508092.1:n.*344-707G=
ENST00000268261.9:c.348-148G= MANE Select	ENSP00000268261.4:n.348-148G=
ENST00000268261.8:c.348-148G=	ENSP00000268261.4:n.348-148G=
ENST00000562318.5:c.*70-148G=	ENSP00000454395.1:n.*70-148G=
ENST00000564069.1:c.319-148G=
ENST00000565221.5:c.179-148G=	ENSP00000457932.1:n.179-148G=
ENST00000565896.5:c.*146-148G=	ENSP00000456024.1:n.*146-148G=
ENST00000566540.5:c.*70-707G=	ENSP00000454284.1:n.*70-707G=
ENST00000566604.5:c.348-707G=	ENSP00000456774.1:n.348-707G=
ENST00000566983.5:c.267-148G=	ENSP00000457956.1:n.267-148G=
ENST00000567697.1:n.3368G=
ENST00000568602.5:c.*201-148G=	ENSP00000455066.1:n.*201-148G=
ENST00000569958.5:c.179-711G=	ENSP00000456302.1:n.179-711G=
ENST00000570076.5:c.179-707G=	ENSP00000456961.1:n.179-707G=
ENST00000570134.5:c.*70-707G=	ENSP00000456275.1:n.*70-707G=
NM_000303.2:c.348-148G=	NP_000294.1:n.348-148G=
XM_005255372.3:c.348-148G=	XP_005255429.1:n.348-148G=
XM_005255373.3:c.99-148G=	XP_005255430.1:n.99-148G=
XM_005255374.3:c.99-148G=	XP_005255431.1:n.99-148G=
XM_011522538.1:c.348-148G=	XP_011520840.1:n.348-148G=
XM_011522539.1:c.-28-148G=	XP_011520841.1:n.-28-148G=
XM_005255374.4:c.99-148G=	XP_005255431.1:n.99-148G=
NM_000303.3:c.348-148G= MANE Select	NP_000294.1:n.348-148G=