Canonical Allele Identifier: CA493489486

Gene: PMM2

Linked Data

• gnomAD v4: 16-8847862-C-A
• MyVariant Identifiers: chr16:g.8941719C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8847862C>A , CM000678.2:g.8847862C>A	GRCh38
NC_000016.9:g.8941719C>A , CM000678.1:g.8941719C>A	GRCh37
NC_000016.8:g.8849220C>A	NCBI36
NG_009209.1:g.55050C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.3946C>A
ENST00000682393.1:c.*258-1507C>A	ENSP00000506774.1:n.*258-1507C>A
ENST00000683094.1:c.*262-1507C>A	ENSP00000508230.1:n.*262-1507C>A
ENST00000683274.1:c.*180-1507C>A	ENSP00000507262.1:n.*180-1507C>A
ENST00000683435.1:c.*674C>A	ENSP00000508092.1:n.*674C>A
ENST00000268261.9:c.*37C>A MANE Select	ENSP00000268261.4:n.*37C>A
ENST00000268261.8:c.*37C>A	ENSP00000268261.4:n.*37C>A
ENST00000562025.1:n.312C>A
ENST00000562318.5:c.*500C>A	ENSP00000454395.1:n.*500C>A
ENST00000565221.5:c.*396C>A	ENSP00000457932.1:n.*396C>A
ENST00000566540.5:c.*400C>A	ENSP00000454284.1:n.*400C>A
ENST00000566604.5:c.*318C>A	ENSP00000456774.1:n.*318C>A
ENST00000566983.5:c.*37C>A	ENSP00000457956.1:n.*37C>A
ENST00000567697.1:n.3946C>A
ENST00000569958.5:c.*37C>A	ENSP00000456302.1:n.*37C>A
ENST00000570076.5:c.*236C>A	ENSP00000456961.1:n.*236C>A
NM_000303.2:c.*37C>A	NP_000294.1:n.*37C>A
XM_005255374.3:c.*37C>A	XP_005255431.1:n.*37C>A
XM_011522538.1:c.640-7172C>A	XP_011520840.1:n.640-7172C>A
XM_005255374.4:c.*37C>A	XP_005255431.1:n.*37C>A
NM_000303.3:c.*37C>A MANE Select	NP_000294.1:n.*37C>A