Canonical Allele Identifier: CA10587619

Gene: FBN2

Linked Data

• ClinVar Variation Id: 263836
• ClinVar RCV Id: RCV002310859 ; RCV002518699
• dbSNP Id: rs886038942
• MyVariant Identifiers: chr5:g.127863574A>G (hg19) ; chr5:g.128527881A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128527881A>G , CM000667.2:g.128527881A>G	GRCh38
NC_000005.9:g.127863574A>G , CM000667.1:g.127863574A>G	GRCh37
NC_000005.8:g.127891473A>G	NCBI36
NG_008750.1:g.15162T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000508053.6:c.523T>C	ENSP00000424571.2:p.Cys175Arg
ENST00000703787.1:n.230T>C
ENST00000262464.9:c.523T>C MANE Select	ENSP00000262464.4:p.Cys175Arg
ENST00000262464.8:c.523T>C	ENSP00000262464.4:p.Cys175Arg
ENST00000502468.5:c.523T>C	ENSP00000424753.1:p.Cys175Arg
ENST00000508053.5:c.523T>C	ENSP00000424571.1:p.Cys175Arg
ENST00000508989.5:c.424T>C	ENSP00000425596.1:p.Cys142Arg
ENST00000514742.1:n.1143T>C
ENST00000619499.4:c.523T>C	ENSP00000482132.1:p.Cys175Arg
ENST00000620257.1:c.523T>C	ENSP00000479157.1:p.Cys175Arg
NM_001999.3:c.523T>C	NP_001990.2:p.Cys175Arg
XM_017009228.2:c.523T>C	XP_016864717.1:p.Cys175Arg
NM_001999.4:c.523T>C MANE Select	NP_001990.2:p.Cys175Arg