Linked Data
ClinVar Variation Id:
343416
ClinVar RCV Id:
RCV000352139
dbSNP Id:
rs540920442
gnomAD v2:
3-133193975-T-G
gnomAD v3:
3-133475131-T-G
gnomAD v4:
3-133475131-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.133475131T>G , CM000665.2:g.133475131T>G | GRCh38 |
| NC_000003.11:g.133193975T>G , CM000665.1:g.133193975T>G | GRCh37 |
| NC_000003.10:g.134676665T>G | NCBI36 |
| NG_012425.1:g.80186T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302334.3:c.*159T>G (BFSP2) MANE Select | ENSP00000304987.2:n.*159T>G | |
| ENST00000302334.2:c.*159T>G (BFSP2) | ENSP00000304987.2:n.*159T>G | |
| ENST00000503047.1:n.387T>G (BFSP2) | ||
| ENST00000510039.1:n.552T>G (BFSP2) | ||
| NM_003571.3:c.*159T>G (BFSP2) | NP_003562.1:n.*159T>G | |
| NR_135276.1:n.245+15771A>C (BFSP2-AS1) | ||
| NR_135277.1:n.245+15771A>C (BFSP2-AS1) | ||
| XM_024453788.1:c.*159T>G (BFSP2) | XP_024309556.1:n.*159T>G | |
| XM_024453789.1:c.*159T>G (BFSP2) | XP_024309557.1:n.*159T>G | |
| NM_003571.4:c.*159T>G (BFSP2) MANE Select | NP_003562.1:n.*159T>G |