Canonical Allele Identifier: CA7894192

Gene: PMM2

Linked Data

• ClinVar Variation Id: 1362466
• ClinVar RCV Id: RCV001932307
• dbSNP Id: rs765599626
• ExAC: 16:8941586 C / T
• gnomAD v2: 16-8941586-C-T
• gnomAD v3: 16-8847729-C-T
• gnomAD v4: 16-8847729-C-T
• COSMIC: COSM4063607
• MyVariant Identifiers: chr16:g.8941586C>T (hg19) ; chr16:g.8847729C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8847729C>T , CM000678.2:g.8847729C>T	GRCh38
NC_000016.9:g.8941586C>T , CM000678.1:g.8941586C>T	GRCh37
NC_000016.8:g.8849087C>T	NCBI36
NG_009209.1:g.54917C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.3813C>T
ENST00000682393.1:c.*258-1640C>T	ENSP00000506774.1:n.*258-1640C>T
ENST00000683094.1:c.*262-1640C>T	ENSP00000508230.1:n.*262-1640C>T
ENST00000683274.1:c.*180-1640C>T	ENSP00000507262.1:n.*180-1640C>T
ENST00000683435.1:c.*541C>T	ENSP00000508092.1:n.*541C>T
ENST00000268261.9:c.645C>T MANE Select	ENSP00000268261.4:p.Gly215=
ENST00000268261.8:c.645C>T	ENSP00000268261.4:p.Gly215=
ENST00000562025.1:n.179C>T
ENST00000562318.5:c.*367C>T	ENSP00000454395.1:n.*367C>T
ENST00000565221.5:c.*263C>T	ENSP00000457932.1:n.*263C>T
ENST00000566540.5:c.*267C>T	ENSP00000454284.1:n.*267C>T
ENST00000566604.5:c.*185C>T	ENSP00000456774.1:n.*185C>T
ENST00000566983.5:c.564C>T	ENSP00000457956.1:p.Gly188=
ENST00000567697.1:n.3813C>T
ENST00000569958.5:c.372C>T	ENSP00000456302.1:p.Gly124=
ENST00000570076.5:c.*103C>T	ENSP00000456961.1:n.*103C>T
NM_000303.2:c.645C>T	NP_000294.1:p.Gly215=
XM_005255374.3:c.396C>T	XP_005255431.1:p.Gly132=
XM_011522538.1:c.640-7305C>T	XP_011520840.1:n.640-7305C>T
XM_005255374.4:c.396C>T	XP_005255431.1:p.Gly132=
NM_000303.3:c.645C>T MANE Select	NP_000294.1:p.Gly215=