Canonical Allele Identifier: CA446309202

Gene: FBN2

Linked Data

• ClinVar Variation Id: 1122177
• ClinVar RCV Id: RCV001452716
• dbSNP Id: rs2126889007
• MyVariant Identifiers: chr5:g.127666308A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128330616A>G , CM000667.2:g.128330616A>G	GRCh38
NC_000005.9:g.127666308A>G , CM000667.1:g.127666308A>G	GRCh37
NC_000005.8:g.127694207A>G	NCBI36
NG_008750.1:g.212428T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.1086T>C
ENST00000703785.1:n.1167T>C
ENST00000262464.9:c.4302T>C MANE Select	ENSP00000262464.4:p.Cys1434=
ENST00000262464.8:c.4302T>C	ENSP00000262464.4:p.Cys1434=
ENST00000507835.5:c.852T>C	ENSP00000426839.1:p.Cys284=
ENST00000508053.5:c.4302T>C	ENSP00000424571.1:p.Cys1434=
ENST00000508989.5:c.4203T>C	ENSP00000425596.1:p.Cys1401=
ENST00000619499.4:c.4299T>C	ENSP00000482132.1:p.Cys1433=
NM_001999.3:c.4302T>C	NP_001990.2:p.Cys1434=
XM_017009228.2:c.4149T>C	XP_016864717.1:p.Cys1383=
NM_001999.4:c.4302T>C MANE Select	NP_001990.2:p.Cys1434=