Canonical Allele Identifier: CA3394683

Gene: FBN2

Linked Data

• ClinVar Variation Id: 458771
• ClinVar RCV Id: RCV000559761 ; RCV000659626 ; RCV000998428 ; RCV002350201 ; RCV003994001
• dbSNP Id: rs140276399
• ExAC: 5:127641568 C / T
• gnomAD v2: 5-127641568-C-T
• gnomAD v3: 5-128305876-C-T
• gnomAD v4: 5-128305876-C-T
• COSMIC: COSM1060336 ; COSM1060337
• MyVariant Identifiers: chr5:g.127641568C>T (hg19) ; chr5:g.128305876C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128305876C>T , CM000667.2:g.128305876C>T	GRCh38
NC_000005.9:g.127641568C>T , CM000667.1:g.127641568C>T	GRCh37
NC_000005.8:g.127669467C>T	NCBI36
NG_008750.1:g.237168G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.2279G>A
ENST00000703785.1:n.2198G>A
ENST00000262464.9:c.5495G>A MANE Select	ENSP00000262464.4:p.Arg1832His
ENST00000262464.8:c.5495G>A	ENSP00000262464.4:p.Arg1832His
ENST00000508053.5:c.5495G>A	ENSP00000424571.1:p.Arg1832His
ENST00000619499.4:c.5492G>A	ENSP00000482132.1:p.Arg1831His
NM_001999.3:c.5495G>A	NP_001990.2:p.Arg1832His
XM_017009228.2:c.5342G>A	XP_016864717.1:p.Arg1781His
NM_001999.4:c.5495G>A MANE Select	NP_001990.2:p.Arg1832His