Canonical Allele Identifier: CA3517986
Gene: GM2A HGNC NCBI
COSMIC:
COSM5867906 (not active)
MyVariant.info:
GRCh38 chr5:g.151267375G>A
GRCh37 chr5:g.150646936G>A
Revel Score:
ENST00000357164 (MANE Select) 0.364
gnomAD v2:
5:150646936 G / A
gnomAD v3:
5:151267375 G / A
gnomAD v4:
chr5-151267375-G-A
Joint Max Group AF 0.00056586 (AFR)
Genomes Max Group AF 0.00053905 (AFR)
Exomes Max Group AF 0.00046904 (AFR)
ClinVar RCV:
RCV002051322
RCV002545675
ClinVar Variation:
1350409
dbSNP:
104893892
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.151267375G>A , CM000667.2:g.151267375G>A GRCh38
NC_000005.9:g.150646936G>A , CM000667.1:g.150646936G>A GRCh37
NC_000005.8:g.150627129G>A NCBI36
NG_009059.1:g.19324G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000357164.4:c.506G>A MANE Select ENSP00000349687.3:p.Arg169His
ENST00000357164.3:c.506G>A ENSP00000349687.3:p.Arg169His
NM_000405.4:c.506G>A NP_000396.2:p.Arg169His
NM_001167607.1:c.413-117G>A NP_001161079.1:n.413-117G>A
NM_000405.5:c.506G>A MANE Select NP_000396.2:p.Arg169His
NM_001167607.2:c.413-117G>A NP_001161079.1:n.413-117G>A
NM_001167607.3:c.413-117G>A NP_001161079.1:n.413-117G>A
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