Canonical Allele Identifier: CA2675117237

Gene: FBN2

Linked Data

• gnomAD v4: 5-128335874-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335874A>T , CM000667.2:g.128335874A>T	GRCh38
NC_000005.9:g.127671566A>T , CM000667.1:g.127671566A>T	GRCh37
NC_000005.8:g.127699465A>T	NCBI36
NG_008750.1:g.207170T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.508+114T>A
ENST00000703785.1:n.589+114T>A
ENST00000262464.9:c.3724+114T>A MANE Select	ENSP00000262464.4:n.3724+114T>A
ENST00000262464.8:c.3724+114T>A	ENSP00000262464.4:n.3724+114T>A
ENST00000507835.5:c.274+114T>A	ENSP00000426839.1:n.274+114T>A
ENST00000508053.5:c.3724+114T>A	ENSP00000424571.1:n.3724+114T>A
ENST00000508989.5:c.3625+114T>A	ENSP00000425596.1:n.3625+114T>A
ENST00000619499.4:c.3721+114T>A	ENSP00000482132.1:n.3721+114T>A
NM_001999.3:c.3724+114T>A	NP_001990.2:n.3724+114T>A
XM_017009228.2:c.3571+114T>A	XP_016864717.1:n.3571+114T>A
NM_001999.4:c.3724+114T>A MANE Select	NP_001990.2:n.3724+114T>A