Canonical Allele Identifier: CA2631646205

Gene: PMM2

Linked Data

• gnomAD v4: 16-8848044-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8848044G>C , CM000678.2:g.8848044G>C	GRCh38
NC_000016.9:g.8941901G>C , CM000678.1:g.8941901G>C	GRCh37
NC_000016.8:g.8849402G>C	NCBI36
NG_009209.1:g.55232G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.4128G>C
ENST00000682393.1:c.*258-1325G>C	ENSP00000506774.1:n.*258-1325G>C
ENST00000683094.1:c.*262-1325G>C	ENSP00000508230.1:n.*262-1325G>C
ENST00000683274.1:c.*180-1325G>C	ENSP00000507262.1:n.*180-1325G>C
ENST00000268261.9:c.*219G>C MANE Select	ENSP00000268261.4:n.*219G>C
ENST00000268261.8:c.*219G>C	ENSP00000268261.4:n.*219G>C
ENST00000562025.1:n.494G>C
ENST00000562318.5:c.*682G>C	ENSP00000454395.1:n.*682G>C
ENST00000566540.5:c.*582G>C	ENSP00000454284.1:n.*582G>C
ENST00000566604.5:c.*500G>C	ENSP00000456774.1:n.*500G>C
ENST00000567697.1:n.4128G>C
ENST00000570076.5:c.*418G>C	ENSP00000456961.1:n.*418G>C
NM_000303.2:c.*219G>C	NP_000294.1:n.*219G>C
XM_005255374.3:c.*219G>C	XP_005255431.1:n.*219G>C
XM_011522538.1:c.640-6990G>C	XP_011520840.1:n.640-6990G>C
XM_005255374.4:c.*219G>C	XP_005255431.1:n.*219G>C
NM_000303.3:c.*219G>C MANE Select	NP_000294.1:n.*219G>C