Canonical Allele Identifier: CA2675116627

Gene: FBN2

Linked Data

• gnomAD v4: 5-128330710-AAT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128330712_128330713del , CM000667.2:g.128330712_128330713del	GRCh38
NC_000005.9:g.127666404_127666405del , CM000667.1:g.127666404_127666405del	GRCh37
NC_000005.8:g.127694303_127694304del	NCBI36
NG_008750.1:g.212332_212333del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.1007-17_1007-16del
ENST00000703785.1:n.1088-17_1088-16del
ENST00000262464.9:c.4223-17_4223-16del MANE Select	ENSP00000262464.4:n.4223-17_4223-16del
ENST00000262464.8:c.4223-17_4223-16del	ENSP00000262464.4:n.4223-17_4223-16del
ENST00000507835.5:c.773-17_773-16del	ENSP00000426839.1:n.773-17_773-16del
ENST00000508053.5:c.4223-17_4223-16del	ENSP00000424571.1:n.4223-17_4223-16del
ENST00000508989.5:c.4124-17_4124-16del	ENSP00000425596.1:n.4124-17_4124-16del
ENST00000619499.4:c.4220-17_4220-16del	ENSP00000482132.1:n.4220-17_4220-16del
NM_001999.3:c.4223-17_4223-16del	NP_001990.2:n.4223-17_4223-16del
XM_017009228.2:c.4070-17_4070-16del	XP_016864717.1:n.4070-17_4070-16del
NM_001999.4:c.4223-17_4223-16del MANE Select	NP_001990.2:n.4223-17_4223-16del