Canonical Allele Identifier: CA360758140

Gene: FBN2

Linked Data

• ClinVar Variation Id: 458763
• ClinVar RCV Id: RCV000556027 ; RCV002314952
• dbSNP Id: rs1554122857
• MyVariant Identifiers: chr5:g.127671258A>G (hg19) ; chr5:g.128335566A>G (hg38)
• PubMed: PMID:19006240 ; PMID:22325249 ; PMID:24899048

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335566A>G , CM000667.2:g.128335566A>G	GRCh38
NC_000005.9:g.127671258A>G , CM000667.1:g.127671258A>G	GRCh37
NC_000005.8:g.127699157A>G	NCBI36
NG_008750.1:g.207478T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.520T>C
ENST00000703785.1:n.601T>C
ENST00000262464.9:c.3736T>C MANE Select	ENSP00000262464.4:p.Cys1246Arg
ENST00000262464.8:c.3736T>C	ENSP00000262464.4:p.Cys1246Arg
ENST00000507835.5:c.286T>C	ENSP00000426839.1:p.Cys96Arg
ENST00000508053.5:c.3736T>C	ENSP00000424571.1:p.Cys1246Arg
ENST00000508989.5:c.3637T>C	ENSP00000425596.1:p.Cys1213Arg
ENST00000619499.4:c.3733T>C	ENSP00000482132.1:p.Cys1245Arg
NM_001999.3:c.3736T>C	NP_001990.2:p.Cys1246Arg
XM_017009228.2:c.3583T>C	XP_016864717.1:p.Cys1195Arg
NM_001999.4:c.3736T>C MANE Select	NP_001990.2:p.Cys1246Arg