Canonical Allele Identifier: CA493489562

Gene: PMM2

Linked Data

• gnomAD v4: 16-8847889-C-T
• MyVariant Identifiers: chr16:g.8941746C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8847889C>T , CM000678.2:g.8847889C>T	GRCh38
NC_000016.9:g.8941746C>T , CM000678.1:g.8941746C>T	GRCh37
NC_000016.8:g.8849247C>T	NCBI36
NG_009209.1:g.55077C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.3973C>T
ENST00000682393.1:c.*258-1480C>T	ENSP00000506774.1:n.*258-1480C>T
ENST00000683094.1:c.*262-1480C>T	ENSP00000508230.1:n.*262-1480C>T
ENST00000683274.1:c.*180-1480C>T	ENSP00000507262.1:n.*180-1480C>T
ENST00000683435.1:c.*701C>T	ENSP00000508092.1:n.*701C>T
ENST00000268261.9:c.*64C>T MANE Select	ENSP00000268261.4:n.*64C>T
ENST00000268261.8:c.*64C>T	ENSP00000268261.4:n.*64C>T
ENST00000562025.1:n.339C>T
ENST00000562318.5:c.*527C>T	ENSP00000454395.1:n.*527C>T
ENST00000565221.5:c.*423C>T	ENSP00000457932.1:n.*423C>T
ENST00000566540.5:c.*427C>T	ENSP00000454284.1:n.*427C>T
ENST00000566604.5:c.*345C>T	ENSP00000456774.1:n.*345C>T
ENST00000567697.1:n.3973C>T
ENST00000569958.5:c.*64C>T	ENSP00000456302.1:n.*64C>T
ENST00000570076.5:c.*263C>T	ENSP00000456961.1:n.*263C>T
NM_000303.2:c.*64C>T	NP_000294.1:n.*64C>T
XM_005255374.3:c.*64C>T	XP_005255431.1:n.*64C>T
XM_011522538.1:c.640-7145C>T	XP_011520840.1:n.640-7145C>T
XM_005255374.4:c.*64C>T	XP_005255431.1:n.*64C>T
NM_000303.3:c.*64C>T MANE Select	NP_000294.1:n.*64C>T