Canonical Allele Identifier: CA341665
Gene: PMM2 HGNC NCBI

Linked Data

ClinVar Variation Id: 21143
ClinVar RCV Id: RCV000020235 RCV000479820 RCV001257997
dbSNP Id: rs80338703
gnomAD v4: 16-8811146-G-A
MyVariant Identifiers: chr16:g.8905003G>A (hg19) chr16:g.8811146G>A (hg38)
PubMed: PMID:11134235 PMID:20301289 PMID:23891399
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8811146G>A , CM000678.2:g.8811146G>A GRCh38
NC_000016.9:g.8905003G>A , CM000678.1:g.8905003G>A GRCh37
NC_000016.8:g.8812504G>A NCBI36
NG_009209.1:g.18334G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000567697.2:n.3583G>A
ENST00000682008.1:c.415G>A ENSP00000507849.1:p.Glu139Lys
ENST00000682393.1:c.*33G>A ENSP00000506774.1:n.*33G>A
ENST00000683094.1:c.*70-492G>A ENSP00000508230.1:n.*70-492G>A
ENST00000683274.1:c.348-492G>A ENSP00000507262.1:n.348-492G>A
ENST00000683435.1:c.*344-492G>A ENSP00000508092.1:n.*344-492G>A
ENST00000268261.9:c.415G>A MANE Select ENSP00000268261.4:p.Glu139Lys
ENST00000268261.8:c.415G>A ENSP00000268261.4:p.Glu139Lys
ENST00000562318.5:c.*137G>A ENSP00000454395.1:n.*137G>A
ENST00000564069.1:c.386G>A
ENST00000565221.5:c.*33G>A ENSP00000457932.1:n.*33G>A
ENST00000565896.5:c.*213G>A ENSP00000456024.1:n.*213G>A
ENST00000566540.5:c.*70-492G>A ENSP00000454284.1:n.*70-492G>A
ENST00000566604.5:c.348-492G>A ENSP00000456774.1:n.348-492G>A
ENST00000566983.5:c.334G>A ENSP00000457956.1:p.Glu112Lys
ENST00000567697.1:n.3583G>A
ENST00000569958.5:c.179-496G>A ENSP00000456302.1:n.179-496G>A
ENST00000570076.5:c.179-492G>A ENSP00000456961.1:n.179-492G>A
ENST00000570134.5:c.*70-492G>A ENSP00000456275.1:n.*70-492G>A
NM_000303.2:c.415G>A NP_000294.1:p.Glu139Lys
XM_005255372.3:c.415G>A XP_005255429.1:p.Glu139Lys
XM_005255373.3:c.166G>A XP_005255430.1:p.Glu56Lys
XM_005255374.3:c.166G>A XP_005255431.1:p.Glu56Lys
XM_011522538.1:c.415G>A XP_011520840.1:p.Glu139Lys
XM_011522539.1:c.40G>A XP_011520841.1:p.Glu14Lys
XM_005255374.4:c.166G>A XP_005255431.1:p.Glu56Lys
NM_000303.3:c.415G>A MANE Select NP_000294.1:p.Glu139Lys
Search 100 bp 5'
Search 100 bp 3'