Canonical Allele Identifier: CA1581269634

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335562A= , CM000667.2:g.128335562A=	GRCh38
NC_000005.9:g.127671254A= , CM000667.1:g.127671254A=	GRCh37
NC_000005.8:g.127699153A=	NCBI36
NG_008750.1:g.207482T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.524T=
ENST00000703785.1:n.605T=
ENST00000262464.9:c.3740T= MANE Select	ENSP00000262464.4:p.Met1247=
ENST00000262464.8:c.3740T=	ENSP00000262464.4:p.Met1247=
ENST00000507835.5:c.290T=	ENSP00000426839.1:p.Met97=
ENST00000508053.5:c.3740T=	ENSP00000424571.1:p.Met1247=
ENST00000508989.5:c.3641T=	ENSP00000425596.1:p.Met1214=
ENST00000619499.4:c.3737T=	ENSP00000482132.1:p.Met1246=
NM_001999.3:c.3740T=	NP_001990.2:p.Met1247=
XM_017009228.2:c.3587T=	XP_016864717.1:p.Met1196=
NM_001999.4:c.3740T= MANE Select	NP_001990.2:p.Met1247=