Canonical Allele Identifier: CA493489620

Gene: PMM2

Linked Data

• MyVariant Identifiers: chr16:g.8941768T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8847911T>G , CM000678.2:g.8847911T>G	GRCh38
NC_000016.9:g.8941768T>G , CM000678.1:g.8941768T>G	GRCh37
NC_000016.8:g.8849269T>G	NCBI36
NG_009209.1:g.55099T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.3995T>G
ENST00000682393.1:c.*258-1458T>G	ENSP00000506774.1:n.*258-1458T>G
ENST00000683094.1:c.*262-1458T>G	ENSP00000508230.1:n.*262-1458T>G
ENST00000683274.1:c.*180-1458T>G	ENSP00000507262.1:n.*180-1458T>G
ENST00000683435.1:c.*723T>G	ENSP00000508092.1:n.*723T>G
ENST00000268261.9:c.*86T>G MANE Select	ENSP00000268261.4:n.*86T>G
ENST00000268261.8:c.*86T>G	ENSP00000268261.4:n.*86T>G
ENST00000562025.1:n.361T>G
ENST00000562318.5:c.*549T>G	ENSP00000454395.1:n.*549T>G
ENST00000565221.5:c.*445T>G	ENSP00000457932.1:n.*445T>G
ENST00000566540.5:c.*449T>G	ENSP00000454284.1:n.*449T>G
ENST00000566604.5:c.*367T>G	ENSP00000456774.1:n.*367T>G
ENST00000567697.1:n.3995T>G
ENST00000569958.5:c.*86T>G	ENSP00000456302.1:n.*86T>G
ENST00000570076.5:c.*285T>G	ENSP00000456961.1:n.*285T>G
NM_000303.2:c.*86T>G	NP_000294.1:n.*86T>G
XM_005255374.3:c.*86T>G	XP_005255431.1:n.*86T>G
XM_011522538.1:c.640-7123T>G	XP_011520840.1:n.640-7123T>G
XM_005255374.4:c.*86T>G	XP_005255431.1:n.*86T>G
NM_000303.3:c.*86T>G MANE Select	NP_000294.1:n.*86T>G