Canonical Allele Identifier: CA2623483

Gene: BFSP2 BFSP2-AS1

Linked Data

• ClinVar Variation Id: 259089
• ClinVar RCV Id: RCV000245174 ; RCV000527125 ; RCV001711813
• dbSNP Id: rs79087781
• ExAC: 3:133191385 C / A
• gnomAD v2: 3-133191385-C-A
• gnomAD v3: 3-133472541-C-A
• gnomAD v4: 3-133472541-C-A
• MyVariant Identifiers: chr3:g.133191385C>A (hg19) ; chr3:g.133472541C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.133472541C>A , CM000665.2:g.133472541C>A	GRCh38
NC_000003.11:g.133191385C>A , CM000665.1:g.133191385C>A	GRCh37
NC_000003.10:g.134674075C>A	NCBI36
NG_012425.1:g.77596C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302334.3:c.1220C>A (BFSP2) MANE Select	ENSP00000304987.2:p.Ala407Asp
ENST00000302334.2:c.1220C>A (BFSP2)	ENSP00000304987.2:p.Ala407Asp
ENST00000503047.1:n.200C>A (BFSP2)
ENST00000510039.1:n.365C>A (BFSP2)
NM_003571.3:c.1220C>A (BFSP2)	NP_003562.1:p.Ala407Asp
NR_135276.1:n.246-17078G>T (BFSP2-AS1)
NR_135277.1:n.246-17078G>T (BFSP2-AS1)
XM_017007315.1:c.1220C>A (BFSP2)	XP_016862804.1:p.Ala407Asp
XM_024453788.1:c.560C>A (BFSP2)	XP_024309556.1:p.Ala187Asp
XM_024453789.1:c.443C>A (BFSP2)	XP_024309557.1:p.Ala148Asp
NM_003571.4:c.1220C>A (BFSP2) MANE Select	NP_003562.1:p.Ala407Asp