Canonical Allele Identifier: CA2675117083

Gene: FBN2

Linked Data

• gnomAD v4: 5-128335336-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335336_128335337insT , CM000667.2:g.128335336_128335337insT	GRCh38
NC_000005.9:g.127671028_127671029insT , CM000667.1:g.127671028_127671029insT	GRCh37
NC_000005.8:g.127698927_127698928insT	NCBI36
NG_008750.1:g.207707_207708insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.632-42_632-41insA
ENST00000703785.1:n.713-42_713-41insA
ENST00000262464.9:c.3848-42_3848-41insA MANE Select	ENSP00000262464.4:n.3848-42_3848-41insA
ENST00000262464.8:c.3848-42_3848-41insA	ENSP00000262464.4:n.3848-42_3848-41insA
ENST00000507835.5:c.398-42_398-41insA	ENSP00000426839.1:n.398-42_398-41insA
ENST00000508053.5:c.3848-42_3848-41insA	ENSP00000424571.1:n.3848-42_3848-41insA
ENST00000508989.5:c.3749-42_3749-41insA	ENSP00000425596.1:n.3749-42_3749-41insA
ENST00000619499.4:c.3845-42_3845-41insA	ENSP00000482132.1:n.3845-42_3845-41insA
NM_001999.3:c.3848-42_3848-41insA	NP_001990.2:n.3848-42_3848-41insA
XM_017009228.2:c.3695-42_3695-41insA	XP_016864717.1:n.3695-42_3695-41insA
NM_001999.4:c.3848-42_3848-41insA MANE Select	NP_001990.2:n.3848-42_3848-41insA