Canonical Allele Identifier: CA7894134

Gene: PMM2

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8813028G>A , CM000678.2:g.8813028G>A	GRCh38
NC_000016.9:g.8906885G>A , CM000678.1:g.8906885G>A	GRCh37
NC_000016.8:g.8814386G>A	NCBI36
NG_009209.1:g.20216G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.3729G>A
ENST00000682008.1:c.561G>A	ENSP00000507849.1:p.Trp187Ter
ENST00000682393.1:c.*179G>A	ENSP00000506774.1:n.*179G>A
ENST00000683094.1:c.*183G>A	ENSP00000508230.1:n.*183G>A
ENST00000683274.1:c.*101G>A	ENSP00000507262.1:n.*101G>A
ENST00000683435.1:c.*457G>A	ENSP00000508092.1:n.*457G>A
ENST00000268261.9:c.561G>A MANE Select	ENSP00000268261.4:p.Trp187Ter
ENST00000268261.8:c.561G>A	ENSP00000268261.4:p.Trp187Ter
ENST00000562318.5:c.*283G>A	ENSP00000454395.1:n.*283G>A
ENST00000564069.1:c.528G>A
ENST00000565221.5:c.*179G>A	ENSP00000457932.1:n.*179G>A
ENST00000566540.5:c.*183G>A	ENSP00000454284.1:n.*183G>A
ENST00000566604.5:c.*101G>A	ENSP00000456774.1:n.*101G>A
ENST00000566983.5:c.480G>A	ENSP00000457956.1:p.Trp160Ter
ENST00000567697.1:n.3729G>A
ENST00000569958.5:c.288G>A	ENSP00000456302.1:p.Trp96Ter
ENST00000570076.5:c.*19G>A	ENSP00000456961.1:n.*19G>A
ENST00000570134.5:c.*183G>A	ENSP00000456275.1:n.*183G>A
NM_000303.2:c.561G>A	NP_000294.1:p.Trp187Ter
XM_005255372.3:c.561G>A	XP_005255429.1:p.Trp187Ter
XM_005255373.3:c.312G>A	XP_005255430.1:p.Trp104Ter
XM_005255374.3:c.312G>A	XP_005255431.1:p.Trp104Ter
XM_011522538.1:c.561G>A	XP_011520840.1:p.Trp187Ter
XM_011522539.1:c.186G>A	XP_011520841.1:p.Trp62Ter
XM_005255374.4:c.312G>A	XP_005255431.1:p.Trp104Ter
NM_000303.3:c.561G>A MANE Select	NP_000294.1:p.Trp187Ter