Canonical Allele Identifier: CA220630
Gene: PMM2 HGNC NCBI

Linked Data

ClinVar Variation Id: 92807
dbSNP Id: rs398123312

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8801827_8801828delinsGC , CM000678.2:g.8801827_8801828delinsGC GRCh38
NC_000016.9:g.8895684_8895685delinsGC , CM000678.1:g.8895684_8895685delinsGC GRCh37
NC_000016.8:g.8803185_8803186delinsGC NCBI36
NG_009209.1:g.9015_9016delinsGC
NG_033146.1:g.821_822delinsGC

Transcript Alleles

HGVS Amino-acid change
ENST00000682008.1:c.95_96delinsGC ENSP00000507849.1:p.Leu32Arg
ENST00000682393.1:c.95_96delinsGC ENSP00000506774.1:p.Leu32Arg
ENST00000683094.1:c.95_96delinsGC ENSP00000508230.1:p.Leu32Arg
ENST00000683274.1:c.95_96delinsGC ENSP00000507262.1:p.Leu32Arg
ENST00000683435.1:c.95_96delinsGC ENSP00000508092.1:p.Leu32Arg
ENST00000268261.9:c.95_96delinsGC MANE Select ENSP00000268261.4:p.Leu32Arg
ENST00000268261.8:c.95_96delinsGC ENSP00000268261.4:p.Leu32Arg
ENST00000562318.5:c.95_96delinsGC ENSP00000454395.1:p.Leu32Arg
ENST00000562448.1:n.136_137delinsGC
ENST00000564030.5:n.157_158delinsGC
ENST00000564069.1:c.66_67delinsGC
ENST00000565221.5:c.95_96delinsGC ENSP00000457932.1:p.Leu32Arg
ENST00000565896.5:c.95_96delinsGC ENSP00000456024.1:p.Leu32Arg
ENST00000566196.5:n.139_140delinsGC
ENST00000566540.5:c.95_96delinsGC ENSP00000454284.1:p.Leu32Arg
ENST00000566604.5:c.95_96delinsGC ENSP00000456774.1:p.Leu32Arg
ENST00000566983.5:c.14_15delinsGC ENSP00000457956.1:p.Leu5Arg
ENST00000568602.5:c.95_96delinsGC ENSP00000455066.1:p.Leu32Arg
ENST00000569958.5:c.95_96delinsGC ENSP00000456302.1:p.Leu32Arg
ENST00000570076.5:c.95_96delinsGC ENSP00000456961.1:p.Leu32Arg
ENST00000570134.5:c.95_96delinsGC ENSP00000456275.1:p.Leu32Arg
NM_000303.2:c.95_96delinsGC NP_000294.1:p.Leu32Arg
XM_005255372.3:c.95_96delinsGC XP_005255429.1:p.Leu32Arg
XM_005255373.3:c.-78_-77delinsGC XP_005255430.1:n.-78_-77delinsGC
XM_005255374.3:c.-78_-77delinsGC XP_005255431.1:n.-78_-77delinsGC
XM_011522538.1:c.95_96delinsGC XP_011520840.1:p.Leu32Arg
XM_011522539.1:c.-112_-111delinsGC XP_011520841.1:n.-112_-111delinsGC
XM_005255374.4:c.-78_-77delinsGC XP_005255431.1:n.-78_-77delinsGC
NM_000303.3:c.95_96delinsGC MANE Select NP_000294.1:p.Leu32Arg