Canonical Allele Identifier: CA2623385

Gene: BFSP2 BFSP2-AS1

Linked Data

• ClinVar Variation Id: 343412
• ClinVar RCV Id: RCV000383474 ; RCV003409549
• dbSNP Id: rs145444931
• ExAC: 3:133169282 G / A
• gnomAD v2: 3-133169282-G-A
• gnomAD v3: 3-133450438-G-A
• gnomAD v4: 3-133450438-G-A
• MyVariant Identifiers: chr3:g.133169282G>A (hg19) ; chr3:g.133450438G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.133450438G>A , CM000665.2:g.133450438G>A	GRCh38
NC_000003.11:g.133169282G>A , CM000665.1:g.133169282G>A	GRCh37
NC_000003.10:g.134651972G>A	NCBI36
NG_012425.1:g.55493G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302334.3:c.865G>A (BFSP2) MANE Select	ENSP00000304987.2:p.Glu289Lys
ENST00000302334.2:c.865G>A (BFSP2)	ENSP00000304987.2:p.Glu289Lys
ENST00000510039.1:n.16G>A (BFSP2)
ENST00000511434.1:n.331G>A (BFSP2)
NM_003571.3:c.865G>A (BFSP2)	NP_003562.1:p.Glu289Lys
XR_241567.2:n.629-1543C>T (BFSP2-AS1)
XR_924501.1:n.629-1543C>T (BFSP2-AS1)
NR_135276.1:n.381-1543C>T (BFSP2-AS1)
NR_135277.1:n.381-4863C>T (BFSP2-AS1)
NR_135278.1:n.168-1543C>T (BFSP2-AS1)
XM_017007315.1:c.865G>A (BFSP2)	XP_016862804.1:p.Glu289Lys
XM_024453788.1:c.205G>A (BFSP2)	XP_024309556.1:p.Glu69Lys
XM_024453789.1:c.88G>A (BFSP2)	XP_024309557.1:p.Glu30Lys
NM_003571.4:c.865G>A (BFSP2) MANE Select	NP_003562.1:p.Glu289Lys