Canonical Allele Identifier: CA16611713

Gene: FBN2

Linked Data

• ClinVar Variation Id: 411834
• ClinVar RCV Id: RCV000468381
• dbSNP Id: rs1060503510
• MyVariant Identifiers: chr5:g.127666304A>G (hg19) ; chr5:g.128330612A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128330612A>G , CM000667.2:g.128330612A>G	GRCh38
NC_000005.9:g.127666304A>G , CM000667.1:g.127666304A>G	GRCh37
NC_000005.8:g.127694203A>G	NCBI36
NG_008750.1:g.212432T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.1090T>C
ENST00000703785.1:n.1171T>C
ENST00000262464.9:c.4306T>C MANE Select	ENSP00000262464.4:p.Cys1436Arg
ENST00000262464.8:c.4306T>C	ENSP00000262464.4:p.Cys1436Arg
ENST00000507835.5:c.856T>C	ENSP00000426839.1:p.Cys286Arg
ENST00000508053.5:c.4306T>C	ENSP00000424571.1:p.Cys1436Arg
ENST00000508989.5:c.4207T>C	ENSP00000425596.1:p.Cys1403Arg
ENST00000619499.4:c.4303T>C	ENSP00000482132.1:p.Cys1435Arg
NM_001999.3:c.4306T>C	NP_001990.2:p.Cys1436Arg
XM_017009228.2:c.4153T>C	XP_016864717.1:p.Cys1385Arg
NM_001999.4:c.4306T>C MANE Select	NP_001990.2:p.Cys1436Arg