Canonical Allele Identifier: CA394689671

Gene: PMM2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8847796C>A , CM000678.2:g.8847796C>A	GRCh38
NC_000016.9:g.8941653C>A , CM000678.1:g.8941653C>A	GRCh37
NC_000016.8:g.8849154C>A	NCBI36
NG_009209.1:g.54984C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.3880C>A
ENST00000682393.1:c.*258-1573C>A	ENSP00000506774.1:n.*258-1573C>A
ENST00000683094.1:c.*262-1573C>A	ENSP00000508230.1:n.*262-1573C>A
ENST00000683274.1:c.*180-1573C>A	ENSP00000507262.1:n.*180-1573C>A
ENST00000683435.1:c.*608C>A	ENSP00000508092.1:n.*608C>A
ENST00000268261.9:c.712C>A MANE Select	ENSP00000268261.4:p.Arg238Ser
ENST00000268261.8:c.712C>A	ENSP00000268261.4:p.Arg238Ser
ENST00000562025.1:n.246C>A
ENST00000562318.5:c.*434C>A	ENSP00000454395.1:n.*434C>A
ENST00000565221.5:c.*330C>A	ENSP00000457932.1:n.*330C>A
ENST00000566540.5:c.*334C>A	ENSP00000454284.1:n.*334C>A
ENST00000566604.5:c.*252C>A	ENSP00000456774.1:n.*252C>A
ENST00000566983.5:c.631C>A	ENSP00000457956.1:p.Arg211Ser
ENST00000567697.1:n.3880C>A
ENST00000569958.5:c.439C>A	ENSP00000456302.1:p.Arg147Ser
ENST00000570076.5:c.*170C>A	ENSP00000456961.1:n.*170C>A
NM_000303.2:c.712C>A	NP_000294.1:p.Arg238Ser
XM_005255374.3:c.463C>A	XP_005255431.1:p.Arg155Ser
XM_011522538.1:c.640-7238C>A	XP_011520840.1:n.640-7238C>A
XM_005255374.4:c.463C>A	XP_005255431.1:p.Arg155Ser
NM_000303.3:c.712C>A MANE Select	NP_000294.1:p.Arg238Ser