Canonical Allele Identifier: CA394696495

Gene: PMM2

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8811080G>T , CM000678.2:g.8811080G>T	GRCh38
NC_000016.9:g.8904937G>T , CM000678.1:g.8904937G>T	GRCh37
NC_000016.8:g.8812438G>T	NCBI36
NG_009209.1:g.18268G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.3517G>T
ENST00000682008.1:c.349G>T	ENSP00000507849.1:p.Gly117Cys
ENST00000682393.1:c.180G>T	ENSP00000506774.1:p.Gly60=
ENST00000683094.1:c.*70-558G>T	ENSP00000508230.1:n.*70-558G>T
ENST00000683274.1:c.348-558G>T	ENSP00000507262.1:n.348-558G>T
ENST00000683435.1:c.*344-558G>T	ENSP00000508092.1:n.*344-558G>T
ENST00000268261.9:c.349G>T MANE Select	ENSP00000268261.4:p.Gly117Cys
ENST00000268261.8:c.349G>T	ENSP00000268261.4:p.Gly117Cys
ENST00000562318.5:c.*71G>T	ENSP00000454395.1:n.*71G>T
ENST00000564069.1:c.320G>T
ENST00000565221.5:c.180G>T	ENSP00000457932.1:p.Gly60=
ENST00000565896.5:c.*147G>T	ENSP00000456024.1:n.*147G>T
ENST00000566540.5:c.*70-558G>T	ENSP00000454284.1:n.*70-558G>T
ENST00000566604.5:c.348-558G>T	ENSP00000456774.1:n.348-558G>T
ENST00000566983.5:c.268G>T	ENSP00000457956.1:p.Gly90Cys
ENST00000567697.1:n.3517G>T
ENST00000568602.5:c.*202G>T	ENSP00000455066.1:n.*202G>T
ENST00000569958.5:c.179-562G>T	ENSP00000456302.1:n.179-562G>T
ENST00000570076.5:c.179-558G>T	ENSP00000456961.1:n.179-558G>T
ENST00000570134.5:c.*70-558G>T	ENSP00000456275.1:n.*70-558G>T
NM_000303.2:c.349G>T	NP_000294.1:p.Gly117Cys
XM_005255372.3:c.349G>T	XP_005255429.1:p.Gly117Cys
XM_005255373.3:c.100G>T	XP_005255430.1:p.Gly34Cys
XM_005255374.3:c.100G>T	XP_005255431.1:p.Gly34Cys
XM_011522538.1:c.349G>T	XP_011520840.1:p.Gly117Cys
XM_011522539.1:c.-27G>T	XP_011520841.1:n.-27G>T
XM_005255374.4:c.100G>T	XP_005255431.1:p.Gly34Cys
NM_000303.3:c.349G>T MANE Select	NP_000294.1:p.Gly117Cys