Canonical Allele Identifier: CA2631646215

Gene: PMM2

Linked Data

• gnomAD v4: 16-8848052-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8848052G>C , CM000678.2:g.8848052G>C	GRCh38
NC_000016.9:g.8941909G>C , CM000678.1:g.8941909G>C	GRCh37
NC_000016.8:g.8849410G>C	NCBI36
NG_009209.1:g.55240G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.4136G>C
ENST00000682393.1:c.*258-1317G>C	ENSP00000506774.1:n.*258-1317G>C
ENST00000683094.1:c.*262-1317G>C	ENSP00000508230.1:n.*262-1317G>C
ENST00000683274.1:c.*180-1317G>C	ENSP00000507262.1:n.*180-1317G>C
ENST00000268261.9:c.*227G>C MANE Select	ENSP00000268261.4:n.*227G>C
ENST00000268261.8:c.*227G>C	ENSP00000268261.4:n.*227G>C
ENST00000562025.1:n.502G>C
ENST00000566540.5:c.*590G>C	ENSP00000454284.1:n.*590G>C
ENST00000566604.5:c.*508G>C	ENSP00000456774.1:n.*508G>C
ENST00000567697.1:n.4136G>C
ENST00000570076.5:c.*426G>C	ENSP00000456961.1:n.*426G>C
NM_000303.2:c.*227G>C	NP_000294.1:n.*227G>C
XM_005255374.3:c.*227G>C	XP_005255431.1:n.*227G>C
XM_011522538.1:c.640-6982G>C	XP_011520840.1:n.640-6982G>C
XM_005255374.4:c.*227G>C	XP_005255431.1:n.*227G>C
NM_000303.3:c.*227G>C MANE Select	NP_000294.1:n.*227G>C