Canonical Allele Identifier: CA725562489

Gene: PMM2

Linked Data

• dbSNP Id: rs1360543839
• gnomAD v3: 16-8848078-C-G
• gnomAD v4: 16-8848078-C-G
• MyVariant Identifiers: chr16:g.8941935C>G (hg19) ; chr16:g.8848078C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8848078C>G , CM000678.2:g.8848078C>G	GRCh38
NC_000016.9:g.8941935C>G , CM000678.1:g.8941935C>G	GRCh37
NC_000016.8:g.8849436C>G	NCBI36
NG_009209.1:g.55266C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.4162C>G
ENST00000682393.1:c.*258-1291C>G	ENSP00000506774.1:n.*258-1291C>G
ENST00000683094.1:c.*262-1291C>G	ENSP00000508230.1:n.*262-1291C>G
ENST00000683274.1:c.*180-1291C>G	ENSP00000507262.1:n.*180-1291C>G
ENST00000268261.9:c.*253C>G MANE Select	ENSP00000268261.4:n.*253C>G
ENST00000268261.8:c.*253C>G	ENSP00000268261.4:n.*253C>G
ENST00000562025.1:n.528C>G
ENST00000566540.5:c.*616C>G	ENSP00000454284.1:n.*616C>G
ENST00000566604.5:c.*534C>G	ENSP00000456774.1:n.*534C>G
ENST00000567697.1:n.4162C>G
ENST00000570076.5:c.*452C>G	ENSP00000456961.1:n.*452C>G
NM_000303.2:c.*253C>G	NP_000294.1:n.*253C>G
XM_005255374.3:c.*253C>G	XP_005255431.1:n.*253C>G
XM_011522538.1:c.640-6956C>G	XP_011520840.1:n.640-6956C>G
XM_005255374.4:c.*253C>G	XP_005255431.1:n.*253C>G
NM_000303.3:c.*253C>G MANE Select	NP_000294.1:n.*253C>G