Canonical Allele Identifier: CA274410
Gene: PMM2 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.8813087T>C
GRCh37 chr16:g.8906944T>C
Revel Score:
ENST00000268261 (MANE Select) 0.982
ENST00000539622 0.982
ENST00000537352 0.982
gnomAD v2:
16:8906944 T / C
gnomAD v3:
16:8813087 T / C
gnomAD v4:
chr16-8813087-T-C
Joint Max Group AF 0.00003232 (AMR)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00002985 (AMR)
ClinVar Allele:
186954
ClinVar RCV:
RCV000169562
ClinVar Variation:
189141
dbSNP:
532870929
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8813087T>C , CM000678.2:g.8813087T>C GRCh38
NC_000016.9:g.8906944T>C , CM000678.1:g.8906944T>C GRCh37
NC_000016.8:g.8814445T>C NCBI36
NG_009209.1:g.20275T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000567697.2:n.3788T>C
ENST00000682008.1:c.620T>C ENSP00000507849.1:p.Phe207Ser
ENST00000682393.1:c.*238T>C ENSP00000506774.1:n.*238T>C
ENST00000683094.1:c.*242T>C ENSP00000508230.1:n.*242T>C
ENST00000683274.1:c.*160T>C ENSP00000507262.1:n.*160T>C
ENST00000683435.1:c.*516T>C ENSP00000508092.1:n.*516T>C
ENST00000268261.9:c.620T>C MANE Select ENSP00000268261.4:p.Phe207Ser
ENST00000268261.8:c.620T>C ENSP00000268261.4:p.Phe207Ser
ENST00000562318.5:c.*342T>C ENSP00000454395.1:n.*342T>C
ENST00000565221.5:c.*238T>C ENSP00000457932.1:n.*238T>C
ENST00000566540.5:c.*242T>C ENSP00000454284.1:n.*242T>C
ENST00000566604.5:c.*160T>C ENSP00000456774.1:n.*160T>C
ENST00000566983.5:c.539T>C ENSP00000457956.1:p.Phe180Ser
ENST00000567697.1:n.3788T>C
ENST00000569958.5:c.347T>C ENSP00000456302.1:p.Phe116Ser
ENST00000570076.5:c.*78T>C ENSP00000456961.1:n.*78T>C
ENST00000570134.5:c.*242T>C ENSP00000456275.1:n.*242T>C
NM_000303.2:c.620T>C NP_000294.1:p.Phe207Ser
XM_005255372.3:c.620T>C XP_005255429.1:p.Phe207Ser
XM_005255373.3:c.371T>C XP_005255430.1:p.Phe124Ser
XM_005255374.3:c.371T>C XP_005255431.1:p.Phe124Ser
XM_011522538.1:c.620T>C XP_011520840.1:p.Phe207Ser
XM_011522539.1:c.245T>C XP_011520841.1:p.Phe82Ser
XM_005255374.4:c.371T>C XP_005255431.1:p.Phe124Ser
NM_000303.3:c.620T>C MANE Select NP_000294.1:p.Phe207Ser
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