Canonical Allele Identifier: CA360754161

Gene: FBN2

Linked Data

• ClinVar Variation Id: 1030506
• ClinVar RCV Id: RCV001332075
• dbSNP Id: rs1750669577
• MyVariant Identifiers: chr5:g.127666360T>C (hg19) ; chr5:g.128330668T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128330668T>C , CM000667.2:g.128330668T>C	GRCh38
NC_000005.9:g.127666360T>C , CM000667.1:g.127666360T>C	GRCh37
NC_000005.8:g.127694259T>C	NCBI36
NG_008750.1:g.212376A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.1034A>G
ENST00000703785.1:n.1115A>G
ENST00000262464.9:c.4250A>G MANE Select	ENSP00000262464.4:p.His1417Arg
ENST00000262464.8:c.4250A>G	ENSP00000262464.4:p.His1417Arg
ENST00000507835.5:c.800A>G	ENSP00000426839.1:p.His267Arg
ENST00000508053.5:c.4250A>G	ENSP00000424571.1:p.His1417Arg
ENST00000508989.5:c.4151A>G	ENSP00000425596.1:p.His1384Arg
ENST00000619499.4:c.4247A>G	ENSP00000482132.1:p.His1416Arg
NM_001999.3:c.4250A>G	NP_001990.2:p.His1417Arg
XM_017009228.2:c.4097A>G	XP_016864717.1:p.His1366Arg
NM_001999.4:c.4250A>G MANE Select	NP_001990.2:p.His1417Arg