Canonical Allele Identifier: CA803626510

Gene: FBN2

Linked Data

• dbSNP Id: rs1297407745
• gnomAD v3: 5-128300467-A-ACAC
• gnomAD v4: 5-128300467-A-ACAC
• MyVariant Identifiers: chr5:g.127636159_127636160insCAC (hg19) ; chr5:g.128300467_128300468insCAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128300469_128300471dup , CM000667.2:g.128300469_128300471dup	GRCh38
NC_000005.9:g.127636161_127636163dup , CM000667.1:g.127636161_127636163dup	GRCh37
NC_000005.8:g.127664060_127664062dup	NCBI36
NG_008750.1:g.242574_242576dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.2950+347_2950+349dup
ENST00000703785.1:n.2869+347_2869+349dup
ENST00000262464.9:c.6166+347_6166+349dup MANE Select	ENSP00000262464.4:n.6166+347_6166+349dup
ENST00000262464.8:c.6166+347_6166+349dup	ENSP00000262464.4:n.6166+347_6166+349dup
ENST00000508053.5:c.6166+347_6166+349dup	ENSP00000424571.1:n.6166+347_6166+349dup
ENST00000619499.4:c.6163+347_6163+349dup	ENSP00000482132.1:n.6163+347_6163+349dup
NM_001999.3:c.6166+347_6166+349dup	NP_001990.2:n.6166+347_6166+349dup
XM_017009228.2:c.6013+347_6013+349dup	XP_016864717.1:n.6013+347_6013+349dup
NM_001999.4:c.6166+347_6166+349dup MANE Select	NP_001990.2:n.6166+347_6166+349dup