Canonical Allele Identifier: CA2631646273

Gene: PMM2

Linked Data

• gnomAD v4: 16-8848097-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8848097G>C , CM000678.2:g.8848097G>C	GRCh38
NC_000016.9:g.8941954G>C , CM000678.1:g.8941954G>C	GRCh37
NC_000016.8:g.8849455G>C	NCBI36
NG_009209.1:g.55285G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.4181G>C
ENST00000682393.1:c.*258-1272G>C	ENSP00000506774.1:n.*258-1272G>C
ENST00000683094.1:c.*262-1272G>C	ENSP00000508230.1:n.*262-1272G>C
ENST00000683274.1:c.*180-1272G>C	ENSP00000507262.1:n.*180-1272G>C
ENST00000268261.9:c.*272G>C MANE Select	ENSP00000268261.4:n.*272G>C
ENST00000268261.8:c.*272G>C	ENSP00000268261.4:n.*272G>C
ENST00000562025.1:n.547G>C
ENST00000566540.5:c.*635G>C	ENSP00000454284.1:n.*635G>C
ENST00000566604.5:c.*553G>C	ENSP00000456774.1:n.*553G>C
ENST00000567697.1:n.4181G>C
ENST00000570076.5:c.*471G>C	ENSP00000456961.1:n.*471G>C
NM_000303.2:c.*272G>C	NP_000294.1:n.*272G>C
XM_005255374.3:c.*272G>C	XP_005255431.1:n.*272G>C
XM_011522538.1:c.640-6937G>C	XP_011520840.1:n.640-6937G>C
XM_005255374.4:c.*272G>C	XP_005255431.1:n.*272G>C
NM_000303.3:c.*272G>C MANE Select	NP_000294.1:n.*272G>C