Canonical Allele Identifier: CA2675116616

Gene: FBN2

Linked Data

• gnomAD v4: 5-128330566-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128330566C>A , CM000667.2:g.128330566C>A	GRCh38
NC_000005.9:g.127666258C>A , CM000667.1:g.127666258C>A	GRCh37
NC_000005.8:g.127694157C>A	NCBI36
NG_008750.1:g.212478G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.1129+7G>T
ENST00000703785.1:n.1210+7G>T
ENST00000262464.9:c.4345+7G>T MANE Select	ENSP00000262464.4:n.4345+7G>T
ENST00000262464.8:c.4345+7G>T	ENSP00000262464.4:n.4345+7G>T
ENST00000507835.5:c.895+7G>T	ENSP00000426839.1:n.895+7G>T
ENST00000508053.5:c.4345+7G>T	ENSP00000424571.1:n.4345+7G>T
ENST00000508989.5:c.4246+7G>T	ENSP00000425596.1:n.4246+7G>T
ENST00000619499.4:c.4342+7G>T	ENSP00000482132.1:n.4342+7G>T
NM_001999.3:c.4345+7G>T	NP_001990.2:n.4345+7G>T
XM_017009228.2:c.4192+7G>T	XP_016864717.1:n.4192+7G>T
NM_001999.4:c.4345+7G>T MANE Select	NP_001990.2:n.4345+7G>T