Canonical Allele Identifier: CA2805787586

Gene: PMM2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8847566C>T , CM000678.2:g.8847566C>T	GRCh38
NC_000016.9:g.8941423C>T , CM000678.1:g.8941423C>T	GRCh37
NC_000016.8:g.8848924C>T	NCBI36
NG_009209.1:g.54754C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000567697.2:n.3808-158C>T
ENST00000682393.1:c.*258-1803C>T	ENSP00000506774.1:n.*258-1803C>T
ENST00000683094.1:c.*262-1803C>T	ENSP00000508230.1:n.*262-1803C>T
ENST00000683274.1:c.*180-1803C>T	ENSP00000507262.1:n.*180-1803C>T
ENST00000683435.1:c.*536-158C>T	ENSP00000508092.1:n.*536-158C>T
ENST00000268261.9:c.640-158C>T MANE Select	ENSP00000268261.4:n.640-158C>T
ENST00000268261.8:c.640-158C>T	ENSP00000268261.4:n.640-158C>T
ENST00000562025.1:n.174-158C>T
ENST00000562318.5:c.*362-158C>T	ENSP00000454395.1:n.*362-158C>T
ENST00000565221.5:c.*258-158C>T	ENSP00000457932.1:n.*258-158C>T
ENST00000566540.5:c.*262-158C>T	ENSP00000454284.1:n.*262-158C>T
ENST00000566604.5:c.*180-158C>T	ENSP00000456774.1:n.*180-158C>T
ENST00000566983.5:c.559-158C>T	ENSP00000457956.1:n.559-158C>T
ENST00000567697.1:n.3808-158C>T
ENST00000569958.5:c.367-158C>T	ENSP00000456302.1:n.367-158C>T
ENST00000570076.5:c.*98-158C>T	ENSP00000456961.1:n.*98-158C>T
NM_000303.2:c.640-158C>T	NP_000294.1:n.640-158C>T
XM_005255374.3:c.391-158C>T	XP_005255431.1:n.391-158C>T
XM_011522538.1:c.640-7468C>T	XP_011520840.1:n.640-7468C>T
XM_005255374.4:c.391-158C>T	XP_005255431.1:n.391-158C>T
NM_000303.3:c.640-158C>T MANE Select	NP_000294.1:n.640-158C>T