Canonical Allele Identifier: CA2631646274

Gene: PMM2

Linked Data

• gnomAD v4: 16-8848098-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8848098A>C , CM000678.2:g.8848098A>C	GRCh38
NC_000016.9:g.8941955A>C , CM000678.1:g.8941955A>C	GRCh37
NC_000016.8:g.8849456A>C	NCBI36
NG_009209.1:g.55286A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.4182A>C
ENST00000682393.1:c.*258-1271A>C	ENSP00000506774.1:n.*258-1271A>C
ENST00000683094.1:c.*262-1271A>C	ENSP00000508230.1:n.*262-1271A>C
ENST00000683274.1:c.*180-1271A>C	ENSP00000507262.1:n.*180-1271A>C
ENST00000268261.9:c.*273A>C MANE Select	ENSP00000268261.4:n.*273A>C
ENST00000268261.8:c.*273A>C	ENSP00000268261.4:n.*273A>C
ENST00000562025.1:n.548A>C
ENST00000566540.5:c.*636A>C	ENSP00000454284.1:n.*636A>C
ENST00000566604.5:c.*554A>C	ENSP00000456774.1:n.*554A>C
ENST00000567697.1:n.4182A>C
ENST00000570076.5:c.*472A>C	ENSP00000456961.1:n.*472A>C
NM_000303.2:c.*273A>C	NP_000294.1:n.*273A>C
XM_005255374.3:c.*273A>C	XP_005255431.1:n.*273A>C
XM_011522538.1:c.640-6936A>C	XP_011520840.1:n.640-6936A>C
XM_005255374.4:c.*273A>C	XP_005255431.1:n.*273A>C
NM_000303.3:c.*273A>C MANE Select	NP_000294.1:n.*273A>C