Canonical Allele Identifier: CA493513341

Gene: PMM2

Linked Data

• MyVariant Identifiers: chr16:g.8904939T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8811082T>G , CM000678.2:g.8811082T>G	GRCh38
NC_000016.9:g.8904939T>G , CM000678.1:g.8904939T>G	GRCh37
NC_000016.8:g.8812440T>G	NCBI36
NG_009209.1:g.18270T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000567697.2:n.3519T>G
ENST00000682008.1:c.351T>G	ENSP00000507849.1:p.Gly117=
ENST00000682393.1:c.182T>G	ENSP00000506774.1:p.Val61Gly
ENST00000683094.1:c.*70-556T>G	ENSP00000508230.1:n.*70-556T>G
ENST00000683274.1:c.348-556T>G	ENSP00000507262.1:n.348-556T>G
ENST00000683435.1:c.*344-556T>G	ENSP00000508092.1:n.*344-556T>G
ENST00000268261.9:c.351T>G MANE Select	ENSP00000268261.4:p.Gly117=
ENST00000268261.8:c.351T>G	ENSP00000268261.4:p.Gly117=
ENST00000562318.5:c.*73T>G	ENSP00000454395.1:n.*73T>G
ENST00000564069.1:c.322T>G
ENST00000565221.5:c.182T>G	ENSP00000457932.1:p.Val61Gly
ENST00000565896.5:c.*149T>G	ENSP00000456024.1:n.*149T>G
ENST00000566540.5:c.*70-556T>G	ENSP00000454284.1:n.*70-556T>G
ENST00000566604.5:c.348-556T>G	ENSP00000456774.1:n.348-556T>G
ENST00000566983.5:c.270T>G	ENSP00000457956.1:p.Gly90=
ENST00000567697.1:n.3519T>G
ENST00000568602.5:c.*204T>G	ENSP00000455066.1:n.*204T>G
ENST00000569958.5:c.179-560T>G	ENSP00000456302.1:n.179-560T>G
ENST00000570076.5:c.179-556T>G	ENSP00000456961.1:n.179-556T>G
ENST00000570134.5:c.*70-556T>G	ENSP00000456275.1:n.*70-556T>G
NM_000303.2:c.351T>G	NP_000294.1:p.Gly117=
XM_005255372.3:c.351T>G	XP_005255429.1:p.Gly117=
XM_005255373.3:c.102T>G	XP_005255430.1:p.Gly34=
XM_005255374.3:c.102T>G	XP_005255431.1:p.Gly34=
XM_011522538.1:c.351T>G	XP_011520840.1:p.Gly117=
XM_011522539.1:c.-25T>G	XP_011520841.1:n.-25T>G
XM_005255374.4:c.102T>G	XP_005255431.1:p.Gly34=
NM_000303.3:c.351T>G MANE Select	NP_000294.1:p.Gly117=