Canonical Allele Identifier: CA493489749

Gene: PMM2

Linked Data

• gnomAD v4: 16-8847955-A-T
• MyVariant Identifiers: chr16:g.8941812A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8847955A>T , CM000678.2:g.8847955A>T	GRCh38
NC_000016.9:g.8941812A>T , CM000678.1:g.8941812A>T	GRCh37
NC_000016.8:g.8849313A>T	NCBI36
NG_009209.1:g.55143A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.4039A>T
ENST00000682393.1:c.*258-1414A>T	ENSP00000506774.1:n.*258-1414A>T
ENST00000683094.1:c.*262-1414A>T	ENSP00000508230.1:n.*262-1414A>T
ENST00000683274.1:c.*180-1414A>T	ENSP00000507262.1:n.*180-1414A>T
ENST00000683435.1:c.*767A>T	ENSP00000508092.1:n.*767A>T
ENST00000268261.9:c.*130A>T MANE Select	ENSP00000268261.4:n.*130A>T
ENST00000268261.8:c.*130A>T	ENSP00000268261.4:n.*130A>T
ENST00000562025.1:n.405A>T
ENST00000562318.5:c.*593A>T	ENSP00000454395.1:n.*593A>T
ENST00000565221.5:c.*489A>T	ENSP00000457932.1:n.*489A>T
ENST00000566540.5:c.*493A>T	ENSP00000454284.1:n.*493A>T
ENST00000566604.5:c.*411A>T	ENSP00000456774.1:n.*411A>T
ENST00000567697.1:n.4039A>T
ENST00000569958.5:c.*130A>T	ENSP00000456302.1:n.*130A>T
ENST00000570076.5:c.*329A>T	ENSP00000456961.1:n.*329A>T
NM_000303.2:c.*130A>T	NP_000294.1:n.*130A>T
XM_005255374.3:c.*130A>T	XP_005255431.1:n.*130A>T
XM_011522538.1:c.640-7079A>T	XP_011520840.1:n.640-7079A>T
XM_005255374.4:c.*130A>T	XP_005255431.1:n.*130A>T
NM_000303.3:c.*130A>T MANE Select	NP_000294.1:n.*130A>T