Canonical Allele Identifier: CA3394623

Gene: FBN2

Linked Data

• ClinVar Variation Id: 1143180
• ClinVar RCV Id: RCV001481226 ; RCV003331165
• dbSNP Id: rs767398234
• ExAC: 5:127640781 C / CA
• gnomAD v2: 5-127640781-C-CA
• gnomAD v3: 5-128305089-C-CA
• gnomAD v4: 5-128305089-C-CA
• MyVariant Identifiers: chr5:g.127640781_127640782insA (hg19) ; chr5:g.128305089_128305090insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128305090dup , CM000667.2:g.128305090dup	GRCh38
NC_000005.9:g.127640782dup , CM000667.1:g.127640782dup	GRCh37
NC_000005.8:g.127668681dup	NCBI36
NG_008750.1:g.237954dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.2459-8dup
ENST00000703785.1:n.2378-8dup
ENST00000262464.9:c.5675-8dup MANE Select	ENSP00000262464.4:n.5675-8dup
ENST00000262464.8:c.5675-8dup	ENSP00000262464.4:n.5675-8dup
ENST00000508053.5:c.5675-8dup	ENSP00000424571.1:n.5675-8dup
ENST00000619499.4:c.5672-8dup	ENSP00000482132.1:n.5672-8dup
NM_001999.3:c.5675-8dup	NP_001990.2:n.5675-8dup
XM_017009228.2:c.5522-8dup	XP_016864717.1:n.5522-8dup
NM_001999.4:c.5675-8dup MANE Select	NP_001990.2:n.5675-8dup