Canonical Allele Identifier: CA7894219

Gene: PMM2

Linked Data

• ClinVar Variation Id: 968340
• ClinVar RCV Id: RCV001243450
• dbSNP Id: rs373888957
• ExAC: 16:8941679 C / G
• gnomAD v2: 16-8941679-C-G
• gnomAD v3: 16-8847822-C-G
• gnomAD v4: 16-8847822-C-G
• MyVariant Identifiers: chr16:g.8941679C>G (hg19) ; chr16:g.8847822C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8847822C>G , CM000678.2:g.8847822C>G	GRCh38
NC_000016.9:g.8941679C>G , CM000678.1:g.8941679C>G	GRCh37
NC_000016.8:g.8849180C>G	NCBI36
NG_009209.1:g.55010C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.3906C>G
ENST00000682393.1:c.*258-1547C>G	ENSP00000506774.1:n.*258-1547C>G
ENST00000683094.1:c.*262-1547C>G	ENSP00000508230.1:n.*262-1547C>G
ENST00000683274.1:c.*180-1547C>G	ENSP00000507262.1:n.*180-1547C>G
ENST00000683435.1:c.*634C>G	ENSP00000508092.1:n.*634C>G
ENST00000268261.9:c.738C>G MANE Select	ENSP00000268261.4:p.Ser246=
ENST00000268261.8:c.738C>G	ENSP00000268261.4:p.Ser246=
ENST00000562025.1:n.272C>G
ENST00000562318.5:c.*460C>G	ENSP00000454395.1:n.*460C>G
ENST00000565221.5:c.*356C>G	ENSP00000457932.1:n.*356C>G
ENST00000566540.5:c.*360C>G	ENSP00000454284.1:n.*360C>G
ENST00000566604.5:c.*278C>G	ENSP00000456774.1:n.*278C>G
ENST00000566983.5:c.657C>G	ENSP00000457956.1:p.Ser219=
ENST00000567697.1:n.3906C>G
ENST00000569958.5:c.465C>G	ENSP00000456302.1:p.Ser155=
ENST00000570076.5:c.*196C>G	ENSP00000456961.1:n.*196C>G
NM_000303.2:c.738C>G	NP_000294.1:p.Ser246=
XM_005255374.3:c.489C>G	XP_005255431.1:p.Ser163=
XM_011522538.1:c.640-7212C>G	XP_011520840.1:n.640-7212C>G
XM_005255374.4:c.489C>G	XP_005255431.1:p.Ser163=
NM_000303.3:c.738C>G MANE Select	NP_000294.1:p.Ser246=