Canonical Allele Identifier: CA1581295382

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128395092T= , CM000667.2:g.128395092T=	GRCh38
NC_000005.9:g.127730785T= , CM000667.1:g.127730785T=	GRCh37
NC_000005.8:g.127758684T=	NCBI36
NG_008750.1:g.147951A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000703787.1:n.938+30A=
ENST00000262464.9:c.1231+30A= MANE Select	ENSP00000262464.4:n.1231+30A=
ENST00000262464.8:c.1231+30A=	ENSP00000262464.4:n.1231+30A=
ENST00000508053.5:c.1231+30A=	ENSP00000424571.1:n.1231+30A=
ENST00000508989.5:c.1132+30A=	ENSP00000425596.1:n.1132+30A=
ENST00000619499.4:c.1228+30A=	ENSP00000482132.1:n.1228+30A=
NM_001999.3:c.1231+30A=	NP_001990.2:n.1231+30A=
XM_017009228.2:c.1079-1724A=	XP_016864717.1:n.1079-1724A=
NM_001999.4:c.1231+30A= MANE Select	NP_001990.2:n.1231+30A=