Canonical Allele Identifier: CA1581269703

Gene: FBN2

Linked Data

• dbSNP Id: rs1750818636
• gnomAD v4: 5-128335707-CTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335709_128335710del , CM000667.2:g.128335709_128335710del	GRCh38
NC_000005.9:g.127671401_127671402del , CM000667.1:g.127671401_127671402del	GRCh37
NC_000005.8:g.127699300_127699301del	NCBI36
NG_008750.1:g.207335_207336del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.509-132_509-131del
ENST00000703785.1:n.590-132_590-131del
ENST00000262464.9:c.3725-132_3725-131del MANE Select	ENSP00000262464.4:n.3725-132_3725-131del
ENST00000262464.8:c.3725-132_3725-131del	ENSP00000262464.4:n.3725-132_3725-131del
ENST00000507835.5:c.275-132_275-131del	ENSP00000426839.1:n.275-132_275-131del
ENST00000508053.5:c.3725-132_3725-131del	ENSP00000424571.1:n.3725-132_3725-131del
ENST00000508989.5:c.3626-132_3626-131del	ENSP00000425596.1:n.3626-132_3626-131del
ENST00000619499.4:c.3722-132_3722-131del	ENSP00000482132.1:n.3722-132_3722-131del
NM_001999.3:c.3725-132_3725-131del	NP_001990.2:n.3725-132_3725-131del
XM_017009228.2:c.3572-132_3572-131del	XP_016864717.1:n.3572-132_3572-131del
NM_001999.4:c.3725-132_3725-131del MANE Select	NP_001990.2:n.3725-132_3725-131del