Canonical Allele Identifier: CA562717093

Gene: FBN2

Linked Data

• dbSNP Id: rs1268771853
• gnomAD v2: 5-127636184-T-TA
• gnomAD v3: 5-128300492-T-TA
• gnomAD v4: 5-128300492-T-TA
• MyVariant Identifiers: chr5:g.127636184_127636185insA (hg19) ; chr5:g.128300492_128300493insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128300492_128300493insA , CM000667.2:g.128300492_128300493insA	GRCh38
NC_000005.9:g.127636184_127636185insA , CM000667.1:g.127636184_127636185insA	GRCh37
NC_000005.8:g.127664083_127664084insA	NCBI36
NG_008750.1:g.242551_242552insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.2950+324_2950+325insT
ENST00000703785.1:n.2869+324_2869+325insT
ENST00000262464.9:c.6166+324_6166+325insT MANE Select	ENSP00000262464.4:n.6166+324_6166+325insT
ENST00000262464.8:c.6166+324_6166+325insT	ENSP00000262464.4:n.6166+324_6166+325insT
ENST00000508053.5:c.6166+324_6166+325insT	ENSP00000424571.1:n.6166+324_6166+325insT
ENST00000619499.4:c.6163+324_6163+325insT	ENSP00000482132.1:n.6163+324_6163+325insT
NM_001999.3:c.6166+324_6166+325insT	NP_001990.2:n.6166+324_6166+325insT
XM_017009228.2:c.6013+324_6013+325insT	XP_016864717.1:n.6013+324_6013+325insT
NM_001999.4:c.6166+324_6166+325insT MANE Select	NP_001990.2:n.6166+324_6166+325insT