Canonical Allele Identifier: CA2675117569

Gene: FBN2

Linked Data

• gnomAD v4: 5-128338227-T-TG

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128338229dup , CM000667.2:g.128338229dup	GRCh38
NC_000005.9:g.127673921dup , CM000667.1:g.127673921dup	GRCh37
NC_000005.8:g.127701820dup	NCBI36
NG_008750.1:g.204816dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.257-106dup
ENST00000703785.1:n.338-106dup
ENST00000262464.9:c.3473-106dup MANE Select	ENSP00000262464.4:n.3473-106dup
ENST00000262464.8:c.3473-106dup	ENSP00000262464.4:n.3473-106dup
ENST00000507835.5:c.23-106dup	ENSP00000426839.1:n.23-106dup
ENST00000508053.5:c.3473-106dup	ENSP00000424571.1:n.3473-106dup
ENST00000508989.5:c.3374-106dup	ENSP00000425596.1:n.3374-106dup
ENST00000619499.4:c.3470-106dup	ENSP00000482132.1:n.3470-106dup
NM_001999.3:c.3473-106dup	NP_001990.2:n.3473-106dup
XM_017009228.2:c.3320-106dup	XP_016864717.1:n.3320-106dup
NM_001999.4:c.3473-106dup MANE Select	NP_001990.2:n.3473-106dup