Canonical Allele Identifier: CA7894214

Gene: PMM2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8847797G>C , CM000678.2:g.8847797G>C	GRCh38
NC_000016.9:g.8941654G>C , CM000678.1:g.8941654G>C	GRCh37
NC_000016.8:g.8849155G>C	NCBI36
NG_009209.1:g.54985G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.3881G>C
ENST00000682393.1:c.*258-1572G>C	ENSP00000506774.1:n.*258-1572G>C
ENST00000683094.1:c.*262-1572G>C	ENSP00000508230.1:n.*262-1572G>C
ENST00000683274.1:c.*180-1572G>C	ENSP00000507262.1:n.*180-1572G>C
ENST00000683435.1:c.*609G>C	ENSP00000508092.1:n.*609G>C
ENST00000268261.9:c.713G>C MANE Select	ENSP00000268261.4:p.Arg238Pro
ENST00000268261.8:c.713G>C	ENSP00000268261.4:p.Arg238Pro
ENST00000562025.1:n.247G>C
ENST00000562318.5:c.*435G>C	ENSP00000454395.1:n.*435G>C
ENST00000565221.5:c.*331G>C	ENSP00000457932.1:n.*331G>C
ENST00000566540.5:c.*335G>C	ENSP00000454284.1:n.*335G>C
ENST00000566604.5:c.*253G>C	ENSP00000456774.1:n.*253G>C
ENST00000566983.5:c.632G>C	ENSP00000457956.1:p.Arg211Pro
ENST00000567697.1:n.3881G>C
ENST00000569958.5:c.440G>C	ENSP00000456302.1:p.Arg147Pro
ENST00000570076.5:c.*171G>C	ENSP00000456961.1:n.*171G>C
NM_000303.2:c.713G>C	NP_000294.1:p.Arg238Pro
XM_005255374.3:c.464G>C	XP_005255431.1:p.Arg155Pro
XM_011522538.1:c.640-7237G>C	XP_011520840.1:n.640-7237G>C
XM_005255374.4:c.464G>C	XP_005255431.1:p.Arg155Pro
NM_000303.3:c.713G>C MANE Select	NP_000294.1:p.Arg238Pro