Canonical Allele Identifier: CA2631646179

Gene: PMM2

Linked Data

• gnomAD v4: 16-8848017-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8848017G>C , CM000678.2:g.8848017G>C	GRCh38
NC_000016.9:g.8941874G>C , CM000678.1:g.8941874G>C	GRCh37
NC_000016.8:g.8849375G>C	NCBI36
NG_009209.1:g.55205G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.4101G>C
ENST00000682393.1:c.*258-1352G>C	ENSP00000506774.1:n.*258-1352G>C
ENST00000683094.1:c.*262-1352G>C	ENSP00000508230.1:n.*262-1352G>C
ENST00000683274.1:c.*180-1352G>C	ENSP00000507262.1:n.*180-1352G>C
ENST00000268261.9:c.*192G>C MANE Select	ENSP00000268261.4:n.*192G>C
ENST00000268261.8:c.*192G>C	ENSP00000268261.4:n.*192G>C
ENST00000562025.1:n.467G>C
ENST00000562318.5:c.*655G>C	ENSP00000454395.1:n.*655G>C
ENST00000565221.5:c.*551G>C	ENSP00000457932.1:n.*551G>C
ENST00000566540.5:c.*555G>C	ENSP00000454284.1:n.*555G>C
ENST00000566604.5:c.*473G>C	ENSP00000456774.1:n.*473G>C
ENST00000567697.1:n.4101G>C
ENST00000569958.5:c.*192G>C	ENSP00000456302.1:n.*192G>C
ENST00000570076.5:c.*391G>C	ENSP00000456961.1:n.*391G>C
NM_000303.2:c.*192G>C	NP_000294.1:n.*192G>C
XM_005255374.3:c.*192G>C	XP_005255431.1:n.*192G>C
XM_011522538.1:c.640-7017G>C	XP_011520840.1:n.640-7017G>C
XM_005255374.4:c.*192G>C	XP_005255431.1:n.*192G>C
NM_000303.3:c.*192G>C MANE Select	NP_000294.1:n.*192G>C