Canonical Allele Identifier: CA118357
Gene: BFSP2 HGNC NCBI
BFSP2-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 6584
ClinVar RCV Id: RCV000006962 RCV000056968
dbSNP Id: rs121908938
ExAC: 3:133167451 AAAG / A
gnomAD v2: 3-133167451-AAAG-A
gnomAD v4: 3-133448607-AAAG-A
MyVariant Identifiers: chr3:g.133167457_133167459del (hg19) chr3:g.133167452_133167454del (hg19) chr3:g.133448613_133448615del (hg38) chr3:g.133448608_133448610del (hg38)
PubMed: PMID:10634598 PMID:10739768 PMID:15570218
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.133448613_133448615del , CM000665.2:g.133448613_133448615del GRCh38
NC_000003.11:g.133167457_133167459del , CM000665.1:g.133167457_133167459del GRCh37
NC_000003.10:g.134650147_134650149del NCBI36
NG_012425.1:g.53668_53670del

Transcript Alleles

HGVS Amino-acid Change
ENST00000302334.3:c.697_699del (BFSP2) MANE Select ENSP00000304987.2:p.Glu233del
ENST00000302334.2:c.697_699del (BFSP2) ENSP00000304987.2:p.Glu233del
NM_003571.3:c.697_699del (BFSP2) NP_003562.1:p.Glu233del
XR_241567.2:n.743+171_743+173del (BFSP2-AS1)
XR_924501.1:n.743+171_743+173del (BFSP2-AS1)
NR_135276.1:n.495+171_495+173del (BFSP2-AS1)
NR_135277.1:n.381-3035_381-3033del (BFSP2-AS1)
NR_135278.1:n.282+171_282+173del (BFSP2-AS1)
XM_017007315.1:c.697_699del (BFSP2) XP_016862804.1:p.Glu233del
XM_024453788.1:c.37_39del (BFSP2) XP_024309556.1:p.Glu13del
NM_003571.4:c.697_699del (BFSP2) MANE Select NP_003562.1:p.Glu233del
Search 100 bp 5'
Search 100 bp 3'