Canonical Allele Identifier: CA2206135715

Gene: PMM2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8811120C= , CM000678.2:g.8811120C=	GRCh38
NC_000016.9:g.8904977C= , CM000678.1:g.8904977C=	GRCh37
NC_000016.8:g.8812478C=	NCBI36
NG_009209.1:g.18308C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.3557C=
ENST00000682008.1:c.389C=	ENSP00000507849.1:p.Ser130=
ENST00000682393.1:c.*7C=	ENSP00000506774.1:n.*7C=
ENST00000683094.1:c.*70-518C=	ENSP00000508230.1:n.*70-518C=
ENST00000683274.1:c.348-518C=	ENSP00000507262.1:n.348-518C=
ENST00000683435.1:c.*344-518C=	ENSP00000508092.1:n.*344-518C=
ENST00000268261.9:c.389C= MANE Select	ENSP00000268261.4:p.Ser130=
ENST00000268261.8:c.389C=	ENSP00000268261.4:p.Ser130=
ENST00000562318.5:c.*111C=	ENSP00000454395.1:n.*111C=
ENST00000564069.1:c.360C=
ENST00000565221.5:c.*7C=	ENSP00000457932.1:n.*7C=
ENST00000565896.5:c.*187C=	ENSP00000456024.1:n.*187C=
ENST00000566540.5:c.*70-518C=	ENSP00000454284.1:n.*70-518C=
ENST00000566604.5:c.348-518C=	ENSP00000456774.1:n.348-518C=
ENST00000566983.5:c.308C=	ENSP00000457956.1:p.Ser103=
ENST00000567697.1:n.3557C=
ENST00000569958.5:c.179-522C=	ENSP00000456302.1:n.179-522C=
ENST00000570076.5:c.179-518C=	ENSP00000456961.1:n.179-518C=
ENST00000570134.5:c.*70-518C=	ENSP00000456275.1:n.*70-518C=
NM_000303.2:c.389C=	NP_000294.1:p.Ser130=
XM_005255372.3:c.389C=	XP_005255429.1:p.Ser130=
XM_005255373.3:c.140C=	XP_005255430.1:p.Ser47=
XM_005255374.3:c.140C=	XP_005255431.1:p.Ser47=
XM_011522538.1:c.389C=	XP_011520840.1:p.Ser130=
XM_011522539.1:c.14C=	XP_011520841.1:p.Ser5=
XM_005255374.4:c.140C=	XP_005255431.1:p.Ser47=
NM_000303.3:c.389C= MANE Select	NP_000294.1:p.Ser130=