Canonical Allele Identifier: CA360758048

Gene: FBN2

Linked Data

• ClinVar Variation Id: 528415
• ClinVar RCV Id: RCV000633604
• dbSNP Id: rs1554122848
• MyVariant Identifiers: chr5:g.127671218T>A (hg19) ; chr5:g.128335526T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335526T>A , CM000667.2:g.128335526T>A	GRCh38
NC_000005.9:g.127671218T>A , CM000667.1:g.127671218T>A	GRCh37
NC_000005.8:g.127699117T>A	NCBI36
NG_008750.1:g.207518A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.560A>T
ENST00000703785.1:n.641A>T
ENST00000262464.9:c.3776A>T MANE Select	ENSP00000262464.4:p.Asn1259Ile
ENST00000262464.8:c.3776A>T	ENSP00000262464.4:p.Asn1259Ile
ENST00000507835.5:c.326A>T	ENSP00000426839.1:p.Asn109Ile
ENST00000508053.5:c.3776A>T	ENSP00000424571.1:p.Asn1259Ile
ENST00000508989.5:c.3677A>T	ENSP00000425596.1:p.Asn1226Ile
ENST00000619499.4:c.3773A>T	ENSP00000482132.1:p.Asn1258Ile
NM_001999.3:c.3776A>T	NP_001990.2:p.Asn1259Ile
XM_017009228.2:c.3623A>T	XP_016864717.1:p.Asn1208Ile
NM_001999.4:c.3776A>T MANE Select	NP_001990.2:p.Asn1259Ile