Canonical Allele Identifier: CA7894221

Gene: PMM2

Linked Data

• dbSNP Id: rs370860106
• ExAC: 16:8941683 C / A
• gnomAD v2: 16-8941683-C-A
• gnomAD v3: 16-8847826-C-A
• gnomAD v4: 16-8847826-C-A
• MyVariant Identifiers: chr16:g.8941683C>A (hg19) ; chr16:g.8847826C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8847826C>A , CM000678.2:g.8847826C>A	GRCh38
NC_000016.9:g.8941683C>A , CM000678.1:g.8941683C>A	GRCh37
NC_000016.8:g.8849184C>A	NCBI36
NG_009209.1:g.55014C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.3910C>A
ENST00000682393.1:c.*258-1543C>A	ENSP00000506774.1:n.*258-1543C>A
ENST00000683094.1:c.*262-1543C>A	ENSP00000508230.1:n.*262-1543C>A
ENST00000683274.1:c.*180-1543C>A	ENSP00000507262.1:n.*180-1543C>A
ENST00000683435.1:c.*638C>A	ENSP00000508092.1:n.*638C>A
ENST00000268261.9:c.*1C>A MANE Select	ENSP00000268261.4:n.*1C>A
ENST00000268261.8:c.*1C>A	ENSP00000268261.4:n.*1C>A
ENST00000562025.1:n.276C>A
ENST00000562318.5:c.*464C>A	ENSP00000454395.1:n.*464C>A
ENST00000565221.5:c.*360C>A	ENSP00000457932.1:n.*360C>A
ENST00000566540.5:c.*364C>A	ENSP00000454284.1:n.*364C>A
ENST00000566604.5:c.*282C>A	ENSP00000456774.1:n.*282C>A
ENST00000566983.5:c.*1C>A	ENSP00000457956.1:n.*1C>A
ENST00000567697.1:n.3910C>A
ENST00000569958.5:c.*1C>A	ENSP00000456302.1:n.*1C>A
ENST00000570076.5:c.*200C>A	ENSP00000456961.1:n.*200C>A
NM_000303.2:c.*1C>A	NP_000294.1:n.*1C>A
XM_005255374.3:c.*1C>A	XP_005255431.1:n.*1C>A
XM_011522538.1:c.640-7208C>A	XP_011520840.1:n.640-7208C>A
XM_005255374.4:c.*1C>A	XP_005255431.1:n.*1C>A
NM_000303.3:c.*1C>A MANE Select	NP_000294.1:n.*1C>A