Canonical Allele Identifier: CA119415
Gene: CCR2 HGNC NCBI
COSMIC:
COSM3760119 (not active)
COSM3760120 (not active)
MyVariant.info:
GRCh38 chr3:g.46357717G>A
GRCh37 chr3:g.46399208G>A
Revel Score:
ENST00000445132 (MANE Select) 0.030
ENST00000292301 0.030
ENST00000421659 0.030
ENST00000400888 0.030
gnomAD v2:
3:46399208 G / A
gnomAD v3:
3:46357717 G / A
gnomAD v4:
chr3-46357717-G-A
Joint Max Group AF 0.23630303 (EAS)
Genomes Max Group AF 0.20163497 (EAS)
Exomes Max Group AF 0.23969168 (EAS)
ClinVar RCV:
RCV000008756
RCV003982833
ClinVar Variation:
8267
dbSNP:
1799864
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.46357717G>A , CM000665.2:g.46357717G>A GRCh38
NC_000003.11:g.46399208G>A , CM000665.1:g.46399208G>A GRCh37
NC_000003.10:g.46374212G>A NCBI36
NG_021428.1:g.8974G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000445132.3:c.190G>A MANE Select ENSP00000399285.2:p.Val64Ile
ENST00000292301.4:c.190G>A ENSP00000292301.3:p.Val64Ile
ENST00000400888.2:c.190G>A ENSP00000383681.2:p.Val64Ile
ENST00000421659.1:c.190G>A ENSP00000396736.1:p.Val64Ile
ENST00000445132.2:c.190G>A ENSP00000399285.2:p.Val64Ile
ENST00000465202.1:n.315-400G>A
NM_001123041.2:c.190G>A NP_001116513.2:p.Val64Ile
NM_001123396.1:c.190G>A NP_001116868.1:p.Val64Ile
XM_011534069.1:c.190G>A XP_011532371.1:p.Val64Ile
NM_001123396.2:c.190G>A NP_001116868.1:p.Val64Ile
NM_001123396.3:c.190G>A NP_001116868.1:p.Val64Ile
NM_001123041.3:c.190G>A NP_001116513.2:p.Val64Ile
NM_001123396.4:c.190G>A MANE Select NP_001116868.1:p.Val64Ile
Search 100 bp 5'
Search 100 bp 3'