Canonical Allele Identifier: CA394689445

Gene: PMM2

Linked Data

• dbSNP Id: rs993974593
• gnomAD v2: 16-8941606-C-G
• gnomAD v4: 16-8847749-C-G
• MyVariant Identifiers: chr16:g.8941606C>G (hg19) ; chr16:g.8847749C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8847749C>G , CM000678.2:g.8847749C>G	GRCh38
NC_000016.9:g.8941606C>G , CM000678.1:g.8941606C>G	GRCh37
NC_000016.8:g.8849107C>G	NCBI36
NG_009209.1:g.54937C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.3833C>G
ENST00000682393.1:c.*258-1620C>G	ENSP00000506774.1:n.*258-1620C>G
ENST00000683094.1:c.*262-1620C>G	ENSP00000508230.1:n.*262-1620C>G
ENST00000683274.1:c.*180-1620C>G	ENSP00000507262.1:n.*180-1620C>G
ENST00000683435.1:c.*561C>G	ENSP00000508092.1:n.*561C>G
ENST00000268261.9:c.665C>G MANE Select	ENSP00000268261.4:p.Thr222Arg
ENST00000268261.8:c.665C>G	ENSP00000268261.4:p.Thr222Arg
ENST00000562025.1:n.199C>G
ENST00000562318.5:c.*387C>G	ENSP00000454395.1:n.*387C>G
ENST00000565221.5:c.*283C>G	ENSP00000457932.1:n.*283C>G
ENST00000566540.5:c.*287C>G	ENSP00000454284.1:n.*287C>G
ENST00000566604.5:c.*205C>G	ENSP00000456774.1:n.*205C>G
ENST00000566983.5:c.584C>G	ENSP00000457956.1:p.Thr195Arg
ENST00000567697.1:n.3833C>G
ENST00000569958.5:c.392C>G	ENSP00000456302.1:p.Thr131Arg
ENST00000570076.5:c.*123C>G	ENSP00000456961.1:n.*123C>G
NM_000303.2:c.665C>G	NP_000294.1:p.Thr222Arg
XM_005255374.3:c.416C>G	XP_005255431.1:p.Thr139Arg
XM_011522538.1:c.640-7285C>G	XP_011520840.1:n.640-7285C>G
XM_005255374.4:c.416C>G	XP_005255431.1:p.Thr139Arg
NM_000303.3:c.665C>G MANE Select	NP_000294.1:p.Thr222Arg