Canonical Allele Identifier: CA394689461

Gene: PMM2

Linked Data

• MyVariant Identifiers: chr16:g.8941611C>A (hg19) ; chr16:g.8847754C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8847754C>A , CM000678.2:g.8847754C>A	GRCh38
NC_000016.9:g.8941611C>A , CM000678.1:g.8941611C>A	GRCh37
NC_000016.8:g.8849112C>A	NCBI36
NG_009209.1:g.54942C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.3838C>A
ENST00000682393.1:c.*258-1615C>A	ENSP00000506774.1:n.*258-1615C>A
ENST00000683094.1:c.*262-1615C>A	ENSP00000508230.1:n.*262-1615C>A
ENST00000683274.1:c.*180-1615C>A	ENSP00000507262.1:n.*180-1615C>A
ENST00000683435.1:c.*566C>A	ENSP00000508092.1:n.*566C>A
ENST00000268261.9:c.670C>A MANE Select	ENSP00000268261.4:p.Pro224Thr
ENST00000268261.8:c.670C>A	ENSP00000268261.4:p.Pro224Thr
ENST00000562025.1:n.204C>A
ENST00000562318.5:c.*392C>A	ENSP00000454395.1:n.*392C>A
ENST00000565221.5:c.*288C>A	ENSP00000457932.1:n.*288C>A
ENST00000566540.5:c.*292C>A	ENSP00000454284.1:n.*292C>A
ENST00000566604.5:c.*210C>A	ENSP00000456774.1:n.*210C>A
ENST00000566983.5:c.589C>A	ENSP00000457956.1:p.Pro197Thr
ENST00000567697.1:n.3838C>A
ENST00000569958.5:c.397C>A	ENSP00000456302.1:p.Pro133Thr
ENST00000570076.5:c.*128C>A	ENSP00000456961.1:n.*128C>A
NM_000303.2:c.670C>A	NP_000294.1:p.Pro224Thr
XM_005255374.3:c.421C>A	XP_005255431.1:p.Pro141Thr
XM_011522538.1:c.640-7280C>A	XP_011520840.1:n.640-7280C>A
XM_005255374.4:c.421C>A	XP_005255431.1:p.Pro141Thr
NM_000303.3:c.670C>A MANE Select	NP_000294.1:p.Pro224Thr