Canonical Allele Identifier: CA493489659

Gene: PMM2

Linked Data

• dbSNP Id: rs1248266658
• gnomAD v3: 16-8847925-C-G
• gnomAD v4: 16-8847925-C-G
• MyVariant Identifiers: chr16:g.8941782C>G (hg19) ; chr16:g.8847925C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8847925C>G , CM000678.2:g.8847925C>G	GRCh38
NC_000016.9:g.8941782C>G , CM000678.1:g.8941782C>G	GRCh37
NC_000016.8:g.8849283C>G	NCBI36
NG_009209.1:g.55113C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.4009C>G
ENST00000682393.1:c.*258-1444C>G	ENSP00000506774.1:n.*258-1444C>G
ENST00000683094.1:c.*262-1444C>G	ENSP00000508230.1:n.*262-1444C>G
ENST00000683274.1:c.*180-1444C>G	ENSP00000507262.1:n.*180-1444C>G
ENST00000683435.1:c.*737C>G	ENSP00000508092.1:n.*737C>G
ENST00000268261.9:c.*100C>G MANE Select	ENSP00000268261.4:n.*100C>G
ENST00000268261.8:c.*100C>G	ENSP00000268261.4:n.*100C>G
ENST00000562025.1:n.375C>G
ENST00000562318.5:c.*563C>G	ENSP00000454395.1:n.*563C>G
ENST00000565221.5:c.*459C>G	ENSP00000457932.1:n.*459C>G
ENST00000566540.5:c.*463C>G	ENSP00000454284.1:n.*463C>G
ENST00000566604.5:c.*381C>G	ENSP00000456774.1:n.*381C>G
ENST00000567697.1:n.4009C>G
ENST00000569958.5:c.*100C>G	ENSP00000456302.1:n.*100C>G
ENST00000570076.5:c.*299C>G	ENSP00000456961.1:n.*299C>G
NM_000303.2:c.*100C>G	NP_000294.1:n.*100C>G
XM_005255374.3:c.*100C>G	XP_005255431.1:n.*100C>G
XM_011522538.1:c.640-7109C>G	XP_011520840.1:n.640-7109C>G
XM_005255374.4:c.*100C>G	XP_005255431.1:n.*100C>G
NM_000303.3:c.*100C>G MANE Select	NP_000294.1:n.*100C>G