Canonical Allele Identifier: CA124330
Gene: MS4A2 HGNC NCBI
COSMIC:
COSM3752524 (not active)
MyVariant.info:
GRCh38 chr11:g.60095631A>G
GRCh37 chr11:g.59863104A>G
Revel Score:
ENST00000278888 (MANE Select) 0.115
gnomAD v2:
11:59863104 A / G
gnomAD v3:
11:60095631 A / G
gnomAD v4:
chr11-60095631-A-G
Joint Max Group AF 0.18101789 (AFR)
Genomes Max Group AF 0.17878423 (AFR)
Exomes Max Group AF 0.18143494 (AFR)
ClinVar RCV:
RCV003333726
ClinVar Variation:
14807
dbSNP:
569108
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.60095631A>G , CM000673.2:g.60095631A>G GRCh38
NC_000011.9:g.59863104A>G , CM000673.1:g.59863104A>G GRCh37
NC_000011.8:g.59619680A>G NCBI36
NG_016014.1:g.11968A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000278888.8:c.710A>G MANE Select ENSP00000278888.3:p.Glu237Gly
ENST00000278888.7:c.710A>G ENSP00000278888.3:p.Glu237Gly
ENST00000617306.1:c.575A>G ENSP00000482594.1:p.Glu192Gly
NM_000139.4:c.710A>G NP_000130.1:p.Glu237Gly
NM_001256916.1:c.575A>G NP_001243845.1:p.Glu192Gly
XM_005273846.3:c.731A>G XP_005273903.1:p.Glu244Gly
XM_011544850.1:c.710A>G XP_011543152.1:p.Glu237Gly
XM_005273846.4:c.731A>G XP_005273903.1:p.Glu244Gly
XM_011544850.2:c.710A>G XP_011543152.1:p.Glu237Gly
NM_000139.5:c.710A>G MANE Select NP_000130.1:p.Glu237Gly
NM_001256916.2:c.575A>G NP_001243845.1:p.Glu192Gly
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