Canonical Allele Identifier: CA1581282214

Gene: FBN2

Linked Data

• dbSNP Id: rs1751522406

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128357180_128357181dup , CM000667.2:g.128357180_128357181dup	GRCh38
NC_000005.9:g.127692872_127692873dup , CM000667.1:g.127692872_127692873dup	GRCh37
NC_000005.8:g.127720771_127720772dup	NCBI36
NG_008750.1:g.185866_185867dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262464.9:c.2674+98_2674+99dup MANE Select	ENSP00000262464.4:n.2674+98_2674+99dup
ENST00000262464.8:c.2674+98_2674+99dup	ENSP00000262464.4:n.2674+98_2674+99dup
ENST00000508053.5:c.2674+98_2674+99dup	ENSP00000424571.1:n.2674+98_2674+99dup
ENST00000508989.5:c.2575+98_2575+99dup	ENSP00000425596.1:n.2575+98_2575+99dup
ENST00000619499.4:c.2671+98_2671+99dup	ENSP00000482132.1:n.2671+98_2671+99dup
NM_001999.3:c.2674+98_2674+99dup	NP_001990.2:n.2674+98_2674+99dup
XM_017009228.2:c.2521+98_2521+99dup	XP_016864717.1:n.2521+98_2521+99dup
NM_001999.4:c.2674+98_2674+99dup MANE Select	NP_001990.2:n.2674+98_2674+99dup