Canonical Allele Identifier: CA350530690
Gene: CXCR2 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.218135424G>A
GRCh37 chr2:g.219000147G>A
Revel Score:
ENST00000318507 (MANE Select) 0.288
gnomAD v2:
2:219000147 G / A
gnomAD v3:
2:218135424 G / A
gnomAD v4:
chr2-218135424-G-A
Joint Max Group AF 0.00000803 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00000731 (NFE)
ClinVar Allele:
1330702
ClinVar RCV:
RCV001824265
ClinVar Variation:
1339556
dbSNP:
1273183086
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218135424G>A , CM000664.2:g.218135424G>A GRCh38
NC_000002.11:g.219000147G>A , CM000664.1:g.219000147G>A GRCh37
NC_000002.10:g.218708392G>A NCBI36
NG_052975.1:g.15135G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000318507.7:c.623G>A MANE Select ENSP00000319635.2:p.Arg208Gln
ENST00000318507.6:c.623G>A ENSP00000319635.2:p.Arg208Gln
NM_001168298.1:c.623G>A NP_001161770.1:p.Arg208Gln
NM_001557.3:c.623G>A NP_001548.1:p.Arg208Gln
XM_005246530.2:c.623G>A XP_005246587.1:p.Arg208Gln
XM_005246530.3:c.623G>A XP_005246587.1:p.Arg208Gln
XM_017003990.1:c.623G>A XP_016859479.1:p.Arg208Gln
XM_017003991.1:c.623G>A XP_016859480.1:p.Arg208Gln
XM_017003992.1:c.623G>A XP_016859481.1:p.Arg208Gln
NM_001557.4:c.623G>A MANE Select NP_001548.1:p.Arg208Gln
NM_001168298.2:c.623G>A NP_001161770.1:p.Arg208Gln
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