Canonical Allele Identifier: CA394696553

Gene: PMM2

Linked Data

• MyVariant Identifiers: chr16:g.8904965T>G (hg19) ; chr16:g.8811108T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8811108T>G , CM000678.2:g.8811108T>G	GRCh38
NC_000016.9:g.8904965T>G , CM000678.1:g.8904965T>G	GRCh37
NC_000016.8:g.8812466T>G	NCBI36
NG_009209.1:g.18296T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.3545T>G
ENST00000682008.1:c.377T>G	ENSP00000507849.1:p.Met126Arg
ENST00000682393.1:c.208T>G	ENSP00000506774.1:p.Cys70Gly
ENST00000683094.1:c.*70-530T>G	ENSP00000508230.1:n.*70-530T>G
ENST00000683274.1:c.348-530T>G	ENSP00000507262.1:n.348-530T>G
ENST00000683435.1:c.*344-530T>G	ENSP00000508092.1:n.*344-530T>G
ENST00000268261.9:c.377T>G MANE Select	ENSP00000268261.4:p.Met126Arg
ENST00000268261.8:c.377T>G	ENSP00000268261.4:p.Met126Arg
ENST00000562318.5:c.*99T>G	ENSP00000454395.1:n.*99T>G
ENST00000564069.1:c.348T>G
ENST00000565221.5:c.208T>G	ENSP00000457932.1:p.Cys70Gly
ENST00000565896.5:c.*175T>G	ENSP00000456024.1:n.*175T>G
ENST00000566540.5:c.*70-530T>G	ENSP00000454284.1:n.*70-530T>G
ENST00000566604.5:c.348-530T>G	ENSP00000456774.1:n.348-530T>G
ENST00000566983.5:c.296T>G	ENSP00000457956.1:p.Met99Arg
ENST00000567697.1:n.3545T>G
ENST00000568602.5:c.*230T>G	ENSP00000455066.1:n.*230T>G
ENST00000569958.5:c.179-534T>G	ENSP00000456302.1:n.179-534T>G
ENST00000570076.5:c.179-530T>G	ENSP00000456961.1:n.179-530T>G
ENST00000570134.5:c.*70-530T>G	ENSP00000456275.1:n.*70-530T>G
NM_000303.2:c.377T>G	NP_000294.1:p.Met126Arg
XM_005255372.3:c.377T>G	XP_005255429.1:p.Met126Arg
XM_005255373.3:c.128T>G	XP_005255430.1:p.Met43Arg
XM_005255374.3:c.128T>G	XP_005255431.1:p.Met43Arg
XM_011522538.1:c.377T>G	XP_011520840.1:p.Met126Arg
XM_011522539.1:c.2T>G	XP_011520841.1:p.Met1Arg
XM_005255374.4:c.128T>G	XP_005255431.1:p.Met43Arg
NM_000303.3:c.377T>G MANE Select	NP_000294.1:p.Met126Arg