Canonical Allele Identifier: CA354585848

Gene: BFSP2 BFSP2-AS1

Linked Data

• MyVariant Identifiers: chr3:g.133185734G>C (hg19) ; chr3:g.133466890G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.133466890G>C , CM000665.2:g.133466890G>C	GRCh38
NC_000003.11:g.133185734G>C , CM000665.1:g.133185734G>C	GRCh37
NC_000003.10:g.134668424G>C	NCBI36
NG_012425.1:g.71945G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302334.3:c.954G>C (BFSP2) MANE Select	ENSP00000304987.2:p.Arg318Ser
ENST00000302334.2:c.954G>C (BFSP2)	ENSP00000304987.2:p.Arg318Ser
ENST00000510039.1:n.99G>C (BFSP2)
ENST00000511434.1:n.420G>C (BFSP2)
NM_003571.3:c.954G>C (BFSP2)	NP_003562.1:p.Arg318Ser
NR_135276.1:n.246-11427C>G (BFSP2-AS1)
NR_135277.1:n.246-11427C>G (BFSP2-AS1)
XM_017007315.1:c.954G>C (BFSP2)	XP_016862804.1:p.Arg318Ser
XM_024453788.1:c.294G>C (BFSP2)	XP_024309556.1:p.Arg98Ser
XM_024453789.1:c.177G>C (BFSP2)	XP_024309557.1:p.Arg59Ser
NM_003571.4:c.954G>C (BFSP2) MANE Select	NP_003562.1:p.Arg318Ser