Canonical Allele Identifier: CA1581295361

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128395073A= , CM000667.2:g.128395073A=	GRCh38
NC_000005.9:g.127730766A= , CM000667.1:g.127730766A=	GRCh37
NC_000005.8:g.127758665A=	NCBI36
NG_008750.1:g.147970T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000703787.1:n.938+49T=
ENST00000262464.9:c.1231+49T= MANE Select	ENSP00000262464.4:n.1231+49T=
ENST00000262464.8:c.1231+49T=	ENSP00000262464.4:n.1231+49T=
ENST00000508053.5:c.1231+49T=	ENSP00000424571.1:n.1231+49T=
ENST00000508989.5:c.1132+49T=	ENSP00000425596.1:n.1132+49T=
ENST00000619499.4:c.1228+49T=	ENSP00000482132.1:n.1228+49T=
NM_001999.3:c.1231+49T=	NP_001990.2:n.1231+49T=
XM_017009228.2:c.1079-1705T=	XP_016864717.1:n.1079-1705T=
NM_001999.4:c.1231+49T= MANE Select	NP_001990.2:n.1231+49T=