Canonical Allele Identifier: CA275299
Gene: PMM2 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.8811173G>A
GRCh37 chr16:g.8905030G>A
Revel Score:
ENST00000268261 (MANE Select) 0.847
ENST00000539622 0.847
ENST00000537352 0.847
gnomAD v2:
16:8905030 G / A
gnomAD v3:
16:8811173 G / A
gnomAD v4:
chr16-8811173-G-A
Joint Max Group AF 0.00070186 (NFE)
Genomes Max Group AF 0.00011273 (AFR)
Exomes Max Group AF 0.0007373 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8811173G>A , CM000678.2:g.8811173G>A GRCh38
NC_000016.9:g.8905030G>A , CM000678.1:g.8905030G>A GRCh37
NC_000016.8:g.8812531G>A NCBI36
NG_009209.1:g.18361G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000567697.2:n.3610G>A
ENST00000682008.1:c.442G>A ENSP00000507849.1:p.Asp148Asn
ENST00000682393.1:c.*60G>A ENSP00000506774.1:n.*60G>A
ENST00000683094.1:c.*70-465G>A ENSP00000508230.1:n.*70-465G>A
ENST00000683274.1:c.348-465G>A ENSP00000507262.1:n.348-465G>A
ENST00000683435.1:c.*344-465G>A ENSP00000508092.1:n.*344-465G>A
ENST00000268261.9:c.442G>A MANE Select ENSP00000268261.4:p.Asp148Asn
ENST00000268261.8:c.442G>A ENSP00000268261.4:p.Asp148Asn
ENST00000562318.5:c.*164G>A ENSP00000454395.1:n.*164G>A
ENST00000564069.1:c.413G>A
ENST00000565221.5:c.*60G>A ENSP00000457932.1:n.*60G>A
ENST00000565896.5:c.*240G>A ENSP00000456024.1:n.*240G>A
ENST00000566540.5:c.*70-465G>A ENSP00000454284.1:n.*70-465G>A
ENST00000566604.5:c.348-465G>A ENSP00000456774.1:n.348-465G>A
ENST00000566983.5:c.361G>A ENSP00000457956.1:p.Asp121Asn
ENST00000567697.1:n.3610G>A
ENST00000569958.5:c.179-469G>A ENSP00000456302.1:n.179-469G>A
ENST00000570076.5:c.179-465G>A ENSP00000456961.1:n.179-465G>A
ENST00000570134.5:c.*70-465G>A ENSP00000456275.1:n.*70-465G>A
NM_000303.2:c.442G>A NP_000294.1:p.Asp148Asn
XM_005255372.3:c.442G>A XP_005255429.1:p.Asp148Asn
XM_005255373.3:c.193G>A XP_005255430.1:p.Asp65Asn
XM_005255374.3:c.193G>A XP_005255431.1:p.Asp65Asn
XM_011522538.1:c.442G>A XP_011520840.1:p.Asp148Asn
XM_011522539.1:c.67G>A XP_011520841.1:p.Asp23Asn
XM_005255374.4:c.193G>A XP_005255431.1:p.Asp65Asn
NM_000303.3:c.442G>A MANE Select NP_000294.1:p.Asp148Asn
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