Canonical Allele Identifier: CA3395008

Gene: FBN2

Linked Data

• ClinVar Variation Id: 388711
• ClinVar RCV Id: RCV002279203 ; RCV002328978
• dbSNP Id: rs143462011
• ExAC: 5:127666312 C / T
• gnomAD v2: 5-127666312-C-T
• gnomAD v3: 5-128330620-C-T
• gnomAD v4: 5-128330620-C-T
• MyVariant Identifiers: chr5:g.127666312C>T (hg19) ; chr5:g.128330620C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128330620C>T , CM000667.2:g.128330620C>T	GRCh38
NC_000005.9:g.127666312C>T , CM000667.1:g.127666312C>T	GRCh37
NC_000005.8:g.127694211C>T	NCBI36
NG_008750.1:g.212424G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.1082G>A
ENST00000703785.1:n.1163G>A
ENST00000262464.9:c.4298G>A MANE Select	ENSP00000262464.4:p.Arg1433His
ENST00000262464.8:c.4298G>A	ENSP00000262464.4:p.Arg1433His
ENST00000507835.5:c.848G>A	ENSP00000426839.1:p.Arg283His
ENST00000508053.5:c.4298G>A	ENSP00000424571.1:p.Arg1433His
ENST00000508989.5:c.4199G>A	ENSP00000425596.1:p.Arg1400His
ENST00000619499.4:c.4295G>A	ENSP00000482132.1:p.Arg1432His
NM_001999.3:c.4298G>A	NP_001990.2:p.Arg1433His
XM_017009228.2:c.4145G>A	XP_016864717.1:p.Arg1382His
NM_001999.4:c.4298G>A MANE Select	NP_001990.2:p.Arg1433His