Canonical Allele Identifier: CA1581269531

Gene: FBN2

Linked Data

• dbSNP Id: rs1750805911
• gnomAD v4: 5-128335328-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335328A>T , CM000667.2:g.128335328A>T	GRCh38
NC_000005.9:g.127671020A>T , CM000667.1:g.127671020A>T	GRCh37
NC_000005.8:g.127698919A>T	NCBI36
NG_008750.1:g.207716T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.632-33T>A
ENST00000703785.1:n.713-33T>A
ENST00000262464.9:c.3848-33T>A MANE Select	ENSP00000262464.4:n.3848-33T>A
ENST00000262464.8:c.3848-33T>A	ENSP00000262464.4:n.3848-33T>A
ENST00000507835.5:c.398-33T>A	ENSP00000426839.1:n.398-33T>A
ENST00000508053.5:c.3848-33T>A	ENSP00000424571.1:n.3848-33T>A
ENST00000508989.5:c.3749-33T>A	ENSP00000425596.1:n.3749-33T>A
ENST00000619499.4:c.3845-33T>A	ENSP00000482132.1:n.3845-33T>A
NM_001999.3:c.3848-33T>A	NP_001990.2:n.3848-33T>A
XM_017009228.2:c.3695-33T>A	XP_016864717.1:n.3695-33T>A
NM_001999.4:c.3848-33T>A MANE Select	NP_001990.2:n.3848-33T>A