Canonical Allele Identifier: CA394689685

Gene: PMM2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8847804C>G , CM000678.2:g.8847804C>G	GRCh38
NC_000016.9:g.8941661C>G , CM000678.1:g.8941661C>G	GRCh37
NC_000016.8:g.8849162C>G	NCBI36
NG_009209.1:g.54992C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.3888C>G
ENST00000682393.1:c.*258-1565C>G	ENSP00000506774.1:n.*258-1565C>G
ENST00000683094.1:c.*262-1565C>G	ENSP00000508230.1:n.*262-1565C>G
ENST00000683274.1:c.*180-1565C>G	ENSP00000507262.1:n.*180-1565C>G
ENST00000683435.1:c.*616C>G	ENSP00000508092.1:n.*616C>G
ENST00000268261.9:c.720C>G MANE Select	ENSP00000268261.4:p.Ile240Met
ENST00000268261.8:c.720C>G	ENSP00000268261.4:p.Ile240Met
ENST00000562025.1:n.254C>G
ENST00000562318.5:c.*442C>G	ENSP00000454395.1:n.*442C>G
ENST00000565221.5:c.*338C>G	ENSP00000457932.1:n.*338C>G
ENST00000566540.5:c.*342C>G	ENSP00000454284.1:n.*342C>G
ENST00000566604.5:c.*260C>G	ENSP00000456774.1:n.*260C>G
ENST00000566983.5:c.639C>G	ENSP00000457956.1:p.Ile213Met
ENST00000567697.1:n.3888C>G
ENST00000569958.5:c.447C>G	ENSP00000456302.1:p.Ile149Met
ENST00000570076.5:c.*178C>G	ENSP00000456961.1:n.*178C>G
NM_000303.2:c.720C>G	NP_000294.1:p.Ile240Met
XM_005255374.3:c.471C>G	XP_005255431.1:p.Ile157Met
XM_011522538.1:c.640-7230C>G	XP_011520840.1:n.640-7230C>G
XM_005255374.4:c.471C>G	XP_005255431.1:p.Ile157Met
NM_000303.3:c.720C>G MANE Select	NP_000294.1:p.Ile240Met