Canonical Allele Identifier: CA3394860

Gene: FBN2

Linked Data

• ClinVar Variation Id: 519823
• ClinVar RCV Id: RCV000696433 ; RCV003144399 ; RCV002313304 ; RCV003980202
• dbSNP Id: rs202218356
• ExAC: 5:127648442 T / A
• gnomAD v2: 5-127648442-T-A
• gnomAD v3: 5-128312750-T-A
• gnomAD v4: 5-128312750-T-A
• MyVariant Identifiers: chr5:g.127648442T>A (hg19) ; chr5:g.128312750T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128312750T>A , CM000667.2:g.128312750T>A	GRCh38
NC_000005.9:g.127648442T>A , CM000667.1:g.127648442T>A	GRCh37
NC_000005.8:g.127676341T>A	NCBI36
NG_008750.1:g.230294A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.1547A>T
ENST00000703785.1:n.1583-797A>T
ENST00000262464.9:c.4763A>T MANE Select	ENSP00000262464.4:p.Asp1588Val
ENST00000262464.8:c.4763A>T	ENSP00000262464.4:p.Asp1588Val
ENST00000508053.5:c.4763A>T	ENSP00000424571.1:p.Asp1588Val
ENST00000619499.4:c.4760A>T	ENSP00000482132.1:p.Asp1587Val
NM_001999.3:c.4763A>T	NP_001990.2:p.Asp1588Val
XM_017009228.2:c.4610A>T	XP_016864717.1:p.Asp1537Val
NM_001999.4:c.4763A>T MANE Select	NP_001990.2:p.Asp1588Val