Canonical Allele Identifier: CA2338848
Gene: ACKR2 HGNC NCBI
KRBOX1 HGNC NCBI
CYP8B1 HGNC NCBI
COSMIC:
COSM1423149 (not active)
MyVariant.info:
GRCh38 chr3:g.42865620A>C
GRCh37 chr3:g.42907112A>C
Revel Score:
ENST00000442925 0.136
ENST00000422265 (MANE Select) 0.136
ENST00000273145 0.136
gnomAD v2:
3:42907112 A / C
gnomAD v3:
3:42865620 A / C
gnomAD v4:
chr3-42865620-A-C
Joint Max Group AF 0.63239819 (EAS)
Genomes Max Group AF 0.64843194 (EAS)
Exomes Max Group AF 0.65851237 (AMR)
dbSNP:
2228468
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.42865620A>C , CM000665.2:g.42865620A>C GRCh38
NC_000003.11:g.42907112A>C , CM000665.1:g.42907112A>C GRCh37
NC_000003.10:g.42882116A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000422265.6:c.1118A>C (ACKR2) MANE Select ENSP00000416996.1:p.Tyr373Ser
ENST00000422265.5:c.1118A>C (ACKR2) ENSP00000416996.1:p.Tyr373Ser
ENST00000426937.5:c.-163-43173A>C (KRBOX1) ENSP00000413859.1:n.-163-43173A>C
ENST00000437102.1:c.1347+8850T>G (CYP8B1) ENSP00000404499.1:n.1347+8850T>G
ENST00000442925.5:c.1118A>C (ACKR2) ENSP00000396150.1:p.Tyr373Ser
ENST00000451200.6:n.168+45909A>C
ENST00000460855.5:n.471+761A>C (ACKR2)
ENST00000498111.5:n.546+761A>C (ACKR2)
NM_001296.4:c.1118A>C (ACKR2) NP_001287.2:p.Tyr373Ser
NM_001296.5:c.1118A>C (ACKR2) MANE Select NP_001287.2:p.Tyr373Ser
Search 100 bp 5'
Search 100 bp 3'