Canonical Allele Identifier: CA16041799
Gene: PMM2 HGNC NCBI

Linked Data

dbSNP Id: rs1057516323
gnomAD v4: 16-8811700-C-CA
MyVariant Identifiers: chr16:g.8905558dupA (hg19) chr16:g.8811701dupA (hg38)
PubMed: PMID:25355454
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8811701dup , CM000678.2:g.8811701dup GRCh38
NC_000016.9:g.8905558dup , CM000678.1:g.8905558dup GRCh37
NC_000016.8:g.8813059dup NCBI36
NG_009209.1:g.18889dup

Transcript Alleles

HGVS Amino-acid change
ENST00000567697.2:n.3679dup
ENST00000682008.1:c.511dup ENSP00000507849.1:p.Thr171AsnfsTer11
ENST00000682393.1:c.*129dup ENSP00000506774.1:n.*129dup
ENST00000683094.1:c.*133dup ENSP00000508230.1:n.*133dup
ENST00000683274.1:c.*51dup ENSP00000507262.1:n.*51dup
ENST00000683435.1:c.*407dup ENSP00000508092.1:n.*407dup
ENST00000268261.9:c.511dup MANE Select ENSP00000268261.4:p.Thr171AsnfsTer11
ENST00000268261.8:c.511dup ENSP00000268261.4:p.Thr171AsnfsTer11
ENST00000562318.5:c.*233dup ENSP00000454395.1:n.*233dup
ENST00000564069.1:c.478dup
ENST00000565221.5:c.*129dup ENSP00000457932.1:n.*129dup
ENST00000566540.5:c.*133dup ENSP00000454284.1:n.*133dup
ENST00000566604.5:c.*51dup ENSP00000456774.1:n.*51dup
ENST00000566983.5:c.430dup ENSP00000457956.1:p.Thr144AsnfsTer11
ENST00000567697.1:n.3679dup
ENST00000569958.5:c.238dup ENSP00000456302.1:p.Thr80AsnfsTer11
ENST00000570076.5:c.242dup ENSP00000456961.1:p.His81GlnfsTer5
ENST00000570134.5:c.*133dup ENSP00000456275.1:n.*133dup
NM_000303.2:c.511dup NP_000294.1:p.Thr171AsnfsTer11
XM_005255372.3:c.511dup XP_005255429.1:p.Thr171AsnfsTer11
XM_005255373.3:c.262dup XP_005255430.1:p.Thr88AsnfsTer11
XM_005255374.3:c.262dup XP_005255431.1:p.Thr88AsnfsTer11
XM_011522538.1:c.511dup XP_011520840.1:p.Thr171AsnfsTer11
XM_011522539.1:c.136dup XP_011520841.1:p.Thr46AsnfsTer11
XM_005255374.4:c.262dup XP_005255431.1:p.Thr88AsnfsTer11
NM_000303.3:c.511dup MANE Select NP_000294.1:p.Thr171AsnfsTer11
Search 100 bp 5'
Search 100 bp 3'