Canonical Allele Identifier: CA1081366528

Gene: FBN2

Linked Data

• dbSNP Id: rs1751518274
• gnomAD v3: 5-128357023-T-TGATTA
• gnomAD v4: 5-128357023-T-TGATTA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128357024_128357028dup , CM000667.2:g.128357024_128357028dup	GRCh38
NC_000005.9:g.127692716_127692720dup , CM000667.1:g.127692716_127692720dup	GRCh37
NC_000005.8:g.127720615_127720619dup	NCBI36
NG_008750.1:g.186016_186020dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262464.9:c.2674+248_2674+252dup MANE Select	ENSP00000262464.4:n.2674+248_2674+252dup
ENST00000262464.8:c.2674+248_2674+252dup	ENSP00000262464.4:n.2674+248_2674+252dup
ENST00000508053.5:c.2674+248_2674+252dup	ENSP00000424571.1:n.2674+248_2674+252dup
ENST00000508989.5:c.2575+248_2575+252dup	ENSP00000425596.1:n.2575+248_2575+252dup
ENST00000619499.4:c.2671+248_2671+252dup	ENSP00000482132.1:n.2671+248_2671+252dup
NM_001999.3:c.2674+248_2674+252dup	NP_001990.2:n.2674+248_2674+252dup
XM_017009228.2:c.2521+248_2521+252dup	XP_016864717.1:n.2521+248_2521+252dup
NM_001999.4:c.2674+248_2674+252dup MANE Select	NP_001990.2:n.2674+248_2674+252dup