Canonical Allele Identifier: CA493489376

Gene: PMM2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8847798C>G , CM000678.2:g.8847798C>G	GRCh38
NC_000016.9:g.8941655C>G , CM000678.1:g.8941655C>G	GRCh37
NC_000016.8:g.8849156C>G	NCBI36
NG_009209.1:g.54986C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.3882C>G
ENST00000682393.1:c.*258-1571C>G	ENSP00000506774.1:n.*258-1571C>G
ENST00000683094.1:c.*262-1571C>G	ENSP00000508230.1:n.*262-1571C>G
ENST00000683274.1:c.*180-1571C>G	ENSP00000507262.1:n.*180-1571C>G
ENST00000683435.1:c.*610C>G	ENSP00000508092.1:n.*610C>G
ENST00000268261.9:c.714C>G MANE Select	ENSP00000268261.4:p.Arg238=
ENST00000268261.8:c.714C>G	ENSP00000268261.4:p.Arg238=
ENST00000562025.1:n.248C>G
ENST00000562318.5:c.*436C>G	ENSP00000454395.1:n.*436C>G
ENST00000565221.5:c.*332C>G	ENSP00000457932.1:n.*332C>G
ENST00000566540.5:c.*336C>G	ENSP00000454284.1:n.*336C>G
ENST00000566604.5:c.*254C>G	ENSP00000456774.1:n.*254C>G
ENST00000566983.5:c.633C>G	ENSP00000457956.1:p.Arg211=
ENST00000567697.1:n.3882C>G
ENST00000569958.5:c.441C>G	ENSP00000456302.1:p.Arg147=
ENST00000570076.5:c.*172C>G	ENSP00000456961.1:n.*172C>G
NM_000303.2:c.714C>G	NP_000294.1:p.Arg238=
XM_005255374.3:c.465C>G	XP_005255431.1:p.Arg155=
XM_011522538.1:c.640-7236C>G	XP_011520840.1:n.640-7236C>G
XM_005255374.4:c.465C>G	XP_005255431.1:p.Arg155=
NM_000303.3:c.714C>G MANE Select	NP_000294.1:p.Arg238=