Canonical Allele Identifier: CA803626467

Gene: FBN2

Linked Data

• dbSNP Id: rs1419393064
• gnomAD v3: 5-128300406-G-GA
• gnomAD v4: 5-128300406-G-GA
• MyVariant Identifiers: chr5:g.127636098_127636099insA (hg19) ; chr5:g.128300406_128300407insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128300411dup , CM000667.2:g.128300411dup	GRCh38
NC_000005.9:g.127636103dup , CM000667.1:g.127636103dup	GRCh37
NC_000005.8:g.127664002dup	NCBI36
NG_008750.1:g.242637dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.2950+410dup
ENST00000703785.1:n.2869+410dup
ENST00000262464.9:c.6166+410dup MANE Select	ENSP00000262464.4:n.6166+410dup
ENST00000262464.8:c.6166+410dup	ENSP00000262464.4:n.6166+410dup
ENST00000508053.5:c.6166+410dup	ENSP00000424571.1:n.6166+410dup
ENST00000619499.4:c.6163+410dup	ENSP00000482132.1:n.6163+410dup
NM_001999.3:c.6166+410dup	NP_001990.2:n.6166+410dup
XM_017009228.2:c.6013+410dup	XP_016864717.1:n.6013+410dup
NM_001999.4:c.6166+410dup MANE Select	NP_001990.2:n.6166+410dup