Canonical Allele Identifier: CA3395007

Gene: FBN2

Linked Data

• dbSNP Id: rs769555894
• ExAC: 5:127666306 G / A
• MyVariant Identifiers: chr5:g.127666306G>A (hg19) ; chr5:g.128330614G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128330614G>A , CM000667.2:g.128330614G>A	GRCh38
NC_000005.9:g.127666306G>A , CM000667.1:g.127666306G>A	GRCh37
NC_000005.8:g.127694205G>A	NCBI36
NG_008750.1:g.212430C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.1088C>T
ENST00000703785.1:n.1169C>T
ENST00000262464.9:c.4304C>T MANE Select	ENSP00000262464.4:p.Ala1435Val
ENST00000262464.8:c.4304C>T	ENSP00000262464.4:p.Ala1435Val
ENST00000507835.5:c.854C>T	ENSP00000426839.1:p.Ala285Val
ENST00000508053.5:c.4304C>T	ENSP00000424571.1:p.Ala1435Val
ENST00000508989.5:c.4205C>T	ENSP00000425596.1:p.Ala1402Val
ENST00000619499.4:c.4301C>T	ENSP00000482132.1:p.Ala1434Val
NM_001999.3:c.4304C>T	NP_001990.2:p.Ala1435Val
XM_017009228.2:c.4151C>T	XP_016864717.1:p.Ala1384Val
NM_001999.4:c.4304C>T MANE Select	NP_001990.2:p.Ala1435Val