Canonical Allele Identifier: CA725562446

Gene: PMM2

Linked Data

• dbSNP Id: rs1382125500
• gnomAD v3: 16-8848053-G-A
• gnomAD v4: 16-8848053-G-A
• MyVariant Identifiers: chr16:g.8941910G>A (hg19) ; chr16:g.8848053G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8848053G>A , CM000678.2:g.8848053G>A	GRCh38
NC_000016.9:g.8941910G>A , CM000678.1:g.8941910G>A	GRCh37
NC_000016.8:g.8849411G>A	NCBI36
NG_009209.1:g.55241G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.4137G>A
ENST00000682393.1:c.*258-1316G>A	ENSP00000506774.1:n.*258-1316G>A
ENST00000683094.1:c.*262-1316G>A	ENSP00000508230.1:n.*262-1316G>A
ENST00000683274.1:c.*180-1316G>A	ENSP00000507262.1:n.*180-1316G>A
ENST00000268261.9:c.*228G>A MANE Select	ENSP00000268261.4:n.*228G>A
ENST00000268261.8:c.*228G>A	ENSP00000268261.4:n.*228G>A
ENST00000562025.1:n.503G>A
ENST00000566540.5:c.*591G>A	ENSP00000454284.1:n.*591G>A
ENST00000566604.5:c.*509G>A	ENSP00000456774.1:n.*509G>A
ENST00000567697.1:n.4137G>A
ENST00000570076.5:c.*427G>A	ENSP00000456961.1:n.*427G>A
NM_000303.2:c.*228G>A	NP_000294.1:n.*228G>A
XM_005255374.3:c.*228G>A	XP_005255431.1:n.*228G>A
XM_011522538.1:c.640-6981G>A	XP_011520840.1:n.640-6981G>A
XM_005255374.4:c.*228G>A	XP_005255431.1:n.*228G>A
NM_000303.3:c.*228G>A MANE Select	NP_000294.1:n.*228G>A