Canonical Allele Identifier: CA493489373

Gene: PMM2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8847795G>C , CM000678.2:g.8847795G>C	GRCh38
NC_000016.9:g.8941652G>C , CM000678.1:g.8941652G>C	GRCh37
NC_000016.8:g.8849153G>C	NCBI36
NG_009209.1:g.54983G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.3879G>C
ENST00000682393.1:c.*258-1574G>C	ENSP00000506774.1:n.*258-1574G>C
ENST00000683094.1:c.*262-1574G>C	ENSP00000508230.1:n.*262-1574G>C
ENST00000683274.1:c.*180-1574G>C	ENSP00000507262.1:n.*180-1574G>C
ENST00000683435.1:c.*607G>C	ENSP00000508092.1:n.*607G>C
ENST00000268261.9:c.711G>C MANE Select	ENSP00000268261.4:p.Thr237=
ENST00000268261.8:c.711G>C	ENSP00000268261.4:p.Thr237=
ENST00000562025.1:n.245G>C
ENST00000562318.5:c.*433G>C	ENSP00000454395.1:n.*433G>C
ENST00000565221.5:c.*329G>C	ENSP00000457932.1:n.*329G>C
ENST00000566540.5:c.*333G>C	ENSP00000454284.1:n.*333G>C
ENST00000566604.5:c.*251G>C	ENSP00000456774.1:n.*251G>C
ENST00000566983.5:c.630G>C	ENSP00000457956.1:p.Thr210=
ENST00000567697.1:n.3879G>C
ENST00000569958.5:c.438G>C	ENSP00000456302.1:p.Thr146=
ENST00000570076.5:c.*169G>C	ENSP00000456961.1:n.*169G>C
NM_000303.2:c.711G>C	NP_000294.1:p.Thr237=
XM_005255374.3:c.462G>C	XP_005255431.1:p.Thr154=
XM_011522538.1:c.640-7239G>C	XP_011520840.1:n.640-7239G>C
XM_005255374.4:c.462G>C	XP_005255431.1:p.Thr154=
NM_000303.3:c.711G>C MANE Select	NP_000294.1:p.Thr237=