Canonical Allele Identifier: CA493489409

Gene: PMM2

Linked Data

• ClinVar Variation Id: 977120
• ClinVar RCV Id: RCV001254657
• dbSNP Id: rs2060938199
• MyVariant Identifiers: chr16:g.8941689A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8847832A>G , CM000678.2:g.8847832A>G	GRCh38
NC_000016.9:g.8941689A>G , CM000678.1:g.8941689A>G	GRCh37
NC_000016.8:g.8849190A>G	NCBI36
NG_009209.1:g.55020A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.3916A>G
ENST00000682393.1:c.*258-1537A>G	ENSP00000506774.1:n.*258-1537A>G
ENST00000683094.1:c.*262-1537A>G	ENSP00000508230.1:n.*262-1537A>G
ENST00000683274.1:c.*180-1537A>G	ENSP00000507262.1:n.*180-1537A>G
ENST00000683435.1:c.*644A>G	ENSP00000508092.1:n.*644A>G
ENST00000268261.9:c.*7A>G MANE Select	ENSP00000268261.4:n.*7A>G
ENST00000268261.8:c.*7A>G	ENSP00000268261.4:n.*7A>G
ENST00000562025.1:n.282A>G
ENST00000562318.5:c.*470A>G	ENSP00000454395.1:n.*470A>G
ENST00000565221.5:c.*366A>G	ENSP00000457932.1:n.*366A>G
ENST00000566540.5:c.*370A>G	ENSP00000454284.1:n.*370A>G
ENST00000566604.5:c.*288A>G	ENSP00000456774.1:n.*288A>G
ENST00000566983.5:c.*7A>G	ENSP00000457956.1:n.*7A>G
ENST00000567697.1:n.3916A>G
ENST00000569958.5:c.*7A>G	ENSP00000456302.1:n.*7A>G
ENST00000570076.5:c.*206A>G	ENSP00000456961.1:n.*206A>G
NM_000303.2:c.*7A>G	NP_000294.1:n.*7A>G
XM_005255374.3:c.*7A>G	XP_005255431.1:n.*7A>G
XM_011522538.1:c.640-7202A>G	XP_011520840.1:n.640-7202A>G
XM_005255374.4:c.*7A>G	XP_005255431.1:n.*7A>G
NM_000303.3:c.*7A>G MANE Select	NP_000294.1:n.*7A>G