Canonical Allele Identifier: CA493489377

Gene: PMM2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8847799A>C , CM000678.2:g.8847799A>C	GRCh38
NC_000016.9:g.8941656A>C , CM000678.1:g.8941656A>C	GRCh37
NC_000016.8:g.8849157A>C	NCBI36
NG_009209.1:g.54987A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.3883A>C
ENST00000682393.1:c.*258-1570A>C	ENSP00000506774.1:n.*258-1570A>C
ENST00000683094.1:c.*262-1570A>C	ENSP00000508230.1:n.*262-1570A>C
ENST00000683274.1:c.*180-1570A>C	ENSP00000507262.1:n.*180-1570A>C
ENST00000683435.1:c.*611A>C	ENSP00000508092.1:n.*611A>C
ENST00000268261.9:c.715A>C MANE Select	ENSP00000268261.4:p.Arg239=
ENST00000268261.8:c.715A>C	ENSP00000268261.4:p.Arg239=
ENST00000562025.1:n.249A>C
ENST00000562318.5:c.*437A>C	ENSP00000454395.1:n.*437A>C
ENST00000565221.5:c.*333A>C	ENSP00000457932.1:n.*333A>C
ENST00000566540.5:c.*337A>C	ENSP00000454284.1:n.*337A>C
ENST00000566604.5:c.*255A>C	ENSP00000456774.1:n.*255A>C
ENST00000566983.5:c.634A>C	ENSP00000457956.1:p.Arg212=
ENST00000567697.1:n.3883A>C
ENST00000569958.5:c.442A>C	ENSP00000456302.1:p.Arg148=
ENST00000570076.5:c.*173A>C	ENSP00000456961.1:n.*173A>C
NM_000303.2:c.715A>C	NP_000294.1:p.Arg239=
XM_005255374.3:c.466A>C	XP_005255431.1:p.Arg156=
XM_011522538.1:c.640-7235A>C	XP_011520840.1:n.640-7235A>C
XM_005255374.4:c.466A>C	XP_005255431.1:p.Arg156=
NM_000303.3:c.715A>C MANE Select	NP_000294.1:p.Arg239=