Canonical Allele Identifier: CA118356
Gene: BFSP2 HGNC NCBI
BFSP2-AS1 HGNC NCBI
COSMIC:
COSM248942
MyVariant.info:
GRCh38 chr3:g.133450432C>T
GRCh37 chr3:g.133169276C>T
Revel Score:
ENST00000302334 (MANE Select) 0.737
gnomAD v2:
3:133169276 C / T
gnomAD v3:
3:133450432 C / T
gnomAD v4:
chr3-133450432-C-T
Joint Max Group AF 0.00002074 (NFE)
Genomes Max Group AF 0.00001171 (NFE)
Exomes Max Group AF 0.00001998 (NFE)
ClinVar RCV:
RCV000006961
RCV000056969
ClinVar Variation:
6583
dbSNP:
104893685
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.133450432C>T , CM000665.2:g.133450432C>T GRCh38
NC_000003.11:g.133169276C>T , CM000665.1:g.133169276C>T GRCh37
NC_000003.10:g.134651966C>T NCBI36
NG_012425.1:g.55487C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000302334.3:c.859C>T (BFSP2) MANE Select ENSP00000304987.2:p.Arg287Trp
ENST00000302334.2:c.859C>T (BFSP2) ENSP00000304987.2:p.Arg287Trp
ENST00000510039.1:n.10C>T (BFSP2)
ENST00000511434.1:n.325C>T (BFSP2)
NM_003571.3:c.859C>T (BFSP2) NP_003562.1:p.Arg287Trp
XR_241567.2:n.629-1537G>A (BFSP2-AS1)
XR_924501.1:n.629-1537G>A (BFSP2-AS1)
NR_135276.1:n.381-1537G>A (BFSP2-AS1)
NR_135277.1:n.381-4857G>A (BFSP2-AS1)
NR_135278.1:n.168-1537G>A (BFSP2-AS1)
XM_017007315.1:c.859C>T (BFSP2) XP_016862804.1:p.Arg287Trp
XM_024453788.1:c.199C>T (BFSP2) XP_024309556.1:p.Arg67Trp
XM_024453789.1:c.82C>T (BFSP2) XP_024309557.1:p.Arg28Trp
NM_003571.4:c.859C>T (BFSP2) MANE Select NP_003562.1:p.Arg287Trp
Search 100 bp 5'
Search 100 bp 3'