Linked Data
ClinVar Variation Id:
343409
ClinVar RCV Id:
RCV000379647
dbSNP Id:
rs886058010
gnomAD v4:
3-133447394-A-G
COSMIC:
COSM3587636
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.133447394A>G , CM000665.2:g.133447394A>G | GRCh38 |
| NC_000003.11:g.133166238A>G , CM000665.1:g.133166238A>G | GRCh37 |
| NC_000003.10:g.134648928A>G | NCBI36 |
| NG_012425.1:g.52449A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302334.3:c.567A>G (BFSP2) MANE Select | ENSP00000304987.2:p.Lys189= | |
| ENST00000302334.2:c.567A>G (BFSP2) | ENSP00000304987.2:p.Lys189= | |
| NM_003571.3:c.567A>G (BFSP2) | NP_003562.1:p.Lys189= | |
| XR_241567.2:n.743+1387T>C (BFSP2-AS1) | ||
| XR_924501.1:n.743+1387T>C (BFSP2-AS1) | ||
| NR_135276.1:n.495+1387T>C (BFSP2-AS1) | ||
| NR_135277.1:n.381-1819T>C (BFSP2-AS1) | ||
| NR_135278.1:n.282+1387T>C (BFSP2-AS1) | ||
| XM_017007315.1:c.567A>G (BFSP2) | XP_016862804.1:p.Lys189= | |
| NM_003571.4:c.567A>G (BFSP2) MANE Select | NP_003562.1:p.Lys189= |