Canonical Allele Identifier: CA2206135712

Gene: PMM2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8811116G= , CM000678.2:g.8811116G=	GRCh38
NC_000016.9:g.8904973G= , CM000678.1:g.8904973G=	GRCh37
NC_000016.8:g.8812474G=	NCBI36
NG_009209.1:g.18304G=

Transcript Alleles

HGVS	Amino-acid Change
NM_000303.3:c.385G= MANE Select	NP_000294.1:p.Val129=
ENST00000268261.9:c.385G= MANE Select	ENSP00000268261.4:p.Val129=
NM_000303.2:c.385G=	NP_000294.1:p.Val129=
ENST00000268261.8:c.385G=	ENSP00000268261.4:p.Val129=
ENST00000562318.5:c.*107G=	ENSP00000454395.1:n.*107G=
ENST00000564069.1:c.356G=
ENST00000565221.5:c.*3G=	ENSP00000457932.1:n.*3G=
ENST00000565896.5:c.*183G=	ENSP00000456024.1:n.*183G=
ENST00000566540.5:c.*70-522G=	ENSP00000454284.1:n.*70-522G=
ENST00000566604.5:c.348-522G=	ENSP00000456774.1:n.348-522G=
ENST00000566983.5:c.304G=	ENSP00000457956.1:p.Val102=
ENST00000567697.1:n.3553G=
ENST00000567697.2:n.3553G=
ENST00000569958.5:c.179-526G=	ENSP00000456302.1:n.179-526G=
ENST00000570076.5:c.179-522G=	ENSP00000456961.1:n.179-522G=
ENST00000570134.5:c.*70-522G=	ENSP00000456275.1:n.*70-522G=
ENST00000682008.1:c.385G=	ENSP00000507849.1:p.Val129=
ENST00000682393.1:c.*3G=	ENSP00000506774.1:n.*3G=
ENST00000683094.1:c.*70-522G=	ENSP00000508230.1:n.*70-522G=
ENST00000683274.1:c.348-522G=	ENSP00000507262.1:n.348-522G=
ENST00000683435.1:c.*344-522G=	ENSP00000508092.1:n.*344-522G=
XM_005255372.3:c.385G=	XP_005255429.1:p.Val129=
XM_005255373.3:c.136G=	XP_005255430.1:p.Val46=
XM_005255374.3:c.136G=	XP_005255431.1:p.Val46=
XM_005255374.4:c.136G=	XP_005255431.1:p.Val46=
XM_011522538.1:c.385G=	XP_011520840.1:p.Val129=
XM_011522539.1:c.10G=	XP_011520841.1:p.Val4=