Canonical Allele Identifier: CA1769689
Gene: MAL HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.95048062C>G
GRCh37 chr2:g.95713807C>G
Revel Score:
ENST00000309988 (MANE Select) 0.154
ENST00000353004 0.154
gnomAD v2:
2:95713807 C / G
gnomAD v3:
2:95048062 C / G
gnomAD v4:
chr2-95048062-C-G
Joint Max Group AF 0.0008951 (MID)
Genomes Max Group AF 0.00006806 (NFE)
Exomes Max Group AF 0.00069006 (MID)
ClinVar RCV:
RCV004340738
ClinVar Variation:
2588459
dbSNP:
201902217
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.95048062C>G , CM000664.2:g.95048062C>G GRCh38
NC_000002.11:g.95713807C>G , CM000664.1:g.95713807C>G GRCh37
NC_000002.10:g.95077534C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000309988.9:c.197C>G MANE Select ENSP00000310880.4:p.Thr66Ser
ENST00000309988.8:c.197C>G ENSP00000310880.4:p.Thr66Ser
ENST00000349807.3:c.94-5319C>G ENSP00000322860.3:n.94-5319C>G
ENST00000353004.7:c.197C>G ENSP00000306568.4:p.Thr66Ser
ENST00000354078.7:c.94-1519C>G ENSP00000304924.3:n.94-1519C>G
NM_002371.3:c.197C>G NP_002362.1:p.Thr66Ser
NM_022438.2:c.197C>G NP_071883.1:p.Thr66Ser
NM_022439.2:c.94-1519C>G NP_071884.1:n.94-1519C>G
NM_022440.2:c.94-5319C>G NP_071885.1:n.94-5319C>G
NM_002371.4:c.197C>G MANE Select NP_002362.1:p.Thr66Ser
NM_022438.3:c.197C>G NP_071883.1:p.Thr66Ser
NM_022439.3:c.94-1519C>G NP_071884.1:n.94-1519C>G
NM_022440.3:c.94-5319C>G NP_071885.1:n.94-5319C>G
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