Canonical Allele Identifier: CA10638642

Gene: PMM2

Linked Data

• ClinVar Variation Id: 321232
• ClinVar RCV Id: RCV000326434 ; RCV001712039
• dbSNP Id: rs2075828
• gnomAD v2: 16-8941934-C-A
• gnomAD v3: 16-8848077-C-A
• gnomAD v4: 16-8848077-C-A
• MyVariant Identifiers: chr16:g.8941934C>A (hg19) ; chr16:g.8848077C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8848077C>A , CM000678.2:g.8848077C>A	GRCh38
NC_000016.9:g.8941934C>A , CM000678.1:g.8941934C>A	GRCh37
NC_000016.8:g.8849435C>A	NCBI36
NG_009209.1:g.55265C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.4161C>A
ENST00000682393.1:c.*258-1292C>A	ENSP00000506774.1:n.*258-1292C>A
ENST00000683094.1:c.*262-1292C>A	ENSP00000508230.1:n.*262-1292C>A
ENST00000683274.1:c.*180-1292C>A	ENSP00000507262.1:n.*180-1292C>A
ENST00000268261.9:c.*252C>A MANE Select	ENSP00000268261.4:n.*252C>A
ENST00000268261.8:c.*252C>A	ENSP00000268261.4:n.*252C>A
ENST00000562025.1:n.527C>A
ENST00000566540.5:c.*615C>A	ENSP00000454284.1:n.*615C>A
ENST00000566604.5:c.*533C>A	ENSP00000456774.1:n.*533C>A
ENST00000567697.1:n.4161C>A
ENST00000570076.5:c.*451C>A	ENSP00000456961.1:n.*451C>A
NM_000303.2:c.*252C>A	NP_000294.1:n.*252C>A
XM_005255374.3:c.*252C>A	XP_005255431.1:n.*252C>A
XM_011522538.1:c.640-6957C>A	XP_011520840.1:n.640-6957C>A
XM_005255374.4:c.*252C>A	XP_005255431.1:n.*252C>A
NM_000303.3:c.*252C>A MANE Select	NP_000294.1:n.*252C>A