Canonical Allele Identifier: CA394689677

Gene: PMM2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8847800G>T , CM000678.2:g.8847800G>T	GRCh38
NC_000016.9:g.8941657G>T , CM000678.1:g.8941657G>T	GRCh37
NC_000016.8:g.8849158G>T	NCBI36
NG_009209.1:g.54988G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.3884G>T
ENST00000682393.1:c.*258-1569G>T	ENSP00000506774.1:n.*258-1569G>T
ENST00000683094.1:c.*262-1569G>T	ENSP00000508230.1:n.*262-1569G>T
ENST00000683274.1:c.*180-1569G>T	ENSP00000507262.1:n.*180-1569G>T
ENST00000683435.1:c.*612G>T	ENSP00000508092.1:n.*612G>T
ENST00000268261.9:c.716G>T MANE Select	ENSP00000268261.4:p.Arg239Met
ENST00000268261.8:c.716G>T	ENSP00000268261.4:p.Arg239Met
ENST00000562025.1:n.250G>T
ENST00000562318.5:c.*438G>T	ENSP00000454395.1:n.*438G>T
ENST00000565221.5:c.*334G>T	ENSP00000457932.1:n.*334G>T
ENST00000566540.5:c.*338G>T	ENSP00000454284.1:n.*338G>T
ENST00000566604.5:c.*256G>T	ENSP00000456774.1:n.*256G>T
ENST00000566983.5:c.635G>T	ENSP00000457956.1:p.Arg212Met
ENST00000567697.1:n.3884G>T
ENST00000569958.5:c.443G>T	ENSP00000456302.1:p.Arg148Met
ENST00000570076.5:c.*174G>T	ENSP00000456961.1:n.*174G>T
NM_000303.2:c.716G>T	NP_000294.1:p.Arg239Met
XM_005255374.3:c.467G>T	XP_005255431.1:p.Arg156Met
XM_011522538.1:c.640-7234G>T	XP_011520840.1:n.640-7234G>T
XM_005255374.4:c.467G>T	XP_005255431.1:p.Arg156Met
NM_000303.3:c.716G>T MANE Select	NP_000294.1:p.Arg239Met