Canonical Allele Identifier: CA2675117082

Gene: FBN2

Linked Data

• gnomAD v4: 5-128335330-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335330A>C , CM000667.2:g.128335330A>C	GRCh38
NC_000005.9:g.127671022A>C , CM000667.1:g.127671022A>C	GRCh37
NC_000005.8:g.127698921A>C	NCBI36
NG_008750.1:g.207714T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.632-35T>G
ENST00000703785.1:n.713-35T>G
ENST00000262464.9:c.3848-35T>G MANE Select	ENSP00000262464.4:n.3848-35T>G
ENST00000262464.8:c.3848-35T>G	ENSP00000262464.4:n.3848-35T>G
ENST00000507835.5:c.398-35T>G	ENSP00000426839.1:n.398-35T>G
ENST00000508053.5:c.3848-35T>G	ENSP00000424571.1:n.3848-35T>G
ENST00000508989.5:c.3749-35T>G	ENSP00000425596.1:n.3749-35T>G
ENST00000619499.4:c.3845-35T>G	ENSP00000482132.1:n.3845-35T>G
NM_001999.3:c.3848-35T>G	NP_001990.2:n.3848-35T>G
XM_017009228.2:c.3695-35T>G	XP_016864717.1:n.3695-35T>G
NM_001999.4:c.3848-35T>G MANE Select	NP_001990.2:n.3848-35T>G