Canonical Allele Identifier: CA1581255395

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128304998T= , CM000667.2:g.128304998T=	GRCh38
NC_000005.9:g.127640690T= , CM000667.1:g.127640690T=	GRCh37
NC_000005.8:g.127668589T=	NCBI36
NG_008750.1:g.238046A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.2543A=
ENST00000703785.1:n.2462A=
ENST00000262464.9:c.5759A= MANE Select	ENSP00000262464.4:p.His1920=
ENST00000262464.8:c.5759A=	ENSP00000262464.4:p.His1920=
ENST00000508053.5:c.5759A=	ENSP00000424571.1:p.His1920=
ENST00000619499.4:c.5756A=	ENSP00000482132.1:p.His1919=
NM_001999.3:c.5759A=	NP_001990.2:p.His1920=
XM_017009228.2:c.5606A=	XP_016864717.1:p.His1869=
NM_001999.4:c.5759A= MANE Select	NP_001990.2:p.His1920=