Canonical Allele Identifier: CA10617405
Gene: BFSP2 HGNC NCBI
BFSP2-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 343416
ClinVar RCV Id: RCV000352139
dbSNP Id: rs540920442

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