Canonical Allele Identifier: CA16041793
Gene: PMM2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370853
ClinVar RCV Id: RCV000409395
dbSNP Id: rs1057516815

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8804777del , CM000678.2:g.8804777del GRCh38
NC_000016.9:g.8898634del , CM000678.1:g.8898634del GRCh37
NC_000016.8:g.8806135del NCBI36
NG_009209.1:g.11965del

Transcript Alleles

HGVS Amino-acid change
NM_000303.2:c.189del VV NP_000294.1:p.Lys63AsnfsTer12
XM_005255372.3:c.189del XP_005255429.1:p.Lys63AsnfsTer12
XM_005255373.3:c.7-1539del XP_005255430.1:p.=
XM_005255374.3:c.7-1539del XP_005255431.1:p.=
XM_011522538.1:c.189del XP_011520840.1:p.Lys63AsnfsTer12
XM_011522539.1:c.-29+2867del XP_011520841.1:p.=
XM_005255374.4:c.7-1539del XP_005255431.1:p.=
NM_000303.3:c.189del VV MANE Preferred NP_000294.1:p.Lys63AsnfsTer12
ENST00000268261.8:c.189del ENSP00000268261.4:p.Lys63AsnfsTer12
ENST00000562318.5:c.179-1539del ENSP00000454395.1:p.=
ENST00000562448.1:n.220-1539del
ENST00000564030.5:n.251del
ENST00000564069.1:n.160del
ENST00000565221.5:c.178+2867del ENSP00000457932.1:p.=
ENST00000565896.5:c.*145+2388del ENSP00000456024.1:p.=
ENST00000566540.5:c.179-1539del ENSP00000454284.1:p.=
ENST00000566604.5:c.189del ENSP00000456774.1:p.Lys63AsnfsTer12
ENST00000566983.5:c.108del ENSP00000457956.1:p.Lys36AsnfsTer12
ENST00000568602.5:c.*42del ENSP00000455066.1:p.=
ENST00000569958.5:c.178+2867del ENSP00000456302.1:p.=
ENST00000570076.5:c.178+2867del ENSP00000456961.1:p.=
ENST00000570134.5:c.179-1539del ENSP00000456275.1:p.=