COSMIC:
COSM3736319 (not active)
Revel Score:
ENST00000442925
0.087
ENST00000422265 (MANE Select)
0.087
ENST00000273145
0.087
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.06385562 (NFE)
Genomes Max Group AF
0.06633441 (NFE)
Exomes Max Group AF
0.06361616 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.42864624T>C , CM000665.2:g.42864624T>C | GRCh38 |
| NC_000003.11:g.42906116T>C , CM000665.1:g.42906116T>C | GRCh37 |
| NC_000003.10:g.42881120T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000422265.6:c.122T>C (ACKR2) MANE Select | ENSP00000416996.1:p.Val41Ala | |
| ENST00000422265.5:c.122T>C (ACKR2) | ENSP00000416996.1:p.Val41Ala | |
| ENST00000426937.5:c.-163-44169T>C (KRBOX1) | ENSP00000413859.1:n.-163-44169T>C | |
| ENST00000437102.1:c.1348-8153A>G (CYP8B1) | ENSP00000404499.1:n.1348-8153A>G | |
| ENST00000442925.5:c.122T>C (ACKR2) | ENSP00000396150.1:p.Val41Ala | |
| ENST00000451200.6:n.168+44913T>C | ||
| ENST00000460855.5:n.236T>C (ACKR2) | ||
| ENST00000492609.1:c.122T>C (ACKR2) | ENSP00000477475.1:p.Val41Ala | |
| ENST00000493193.1:c.122T>C (ACKR2) | ENSP00000476581.1:p.Val41Ala | |
| ENST00000494619.1:c.122T>C (ACKR2) | ENSP00000477157.1:p.Val41Ala | |
| ENST00000497921.2:c.122T>C (ACKR2) | ENSP00000476901.1:p.Val41Ala | |
| ENST00000498111.5:n.311T>C (ACKR2) | ||
| NM_001296.4:c.122T>C (ACKR2) | NP_001287.2:p.Val41Ala | |
| NM_001296.5:c.122T>C (ACKR2) MANE Select | NP_001287.2:p.Val41Ala |