Canonical Allele Identifier: CA360758147

Gene: FBN2

Linked Data

• MyVariant Identifiers: chr5:g.127671261C>T (hg19) ; chr5:g.128335569C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335569C>T , CM000667.2:g.128335569C>T	GRCh38
NC_000005.9:g.127671261C>T , CM000667.1:g.127671261C>T	GRCh37
NC_000005.8:g.127699160C>T	NCBI36
NG_008750.1:g.207475G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.517G>A
ENST00000703785.1:n.598G>A
ENST00000262464.9:c.3733G>A MANE Select	ENSP00000262464.4:p.Glu1245Lys
ENST00000262464.8:c.3733G>A	ENSP00000262464.4:p.Glu1245Lys
ENST00000507835.5:c.283G>A	ENSP00000426839.1:p.Glu95Lys
ENST00000508053.5:c.3733G>A	ENSP00000424571.1:p.Glu1245Lys
ENST00000508989.5:c.3634G>A	ENSP00000425596.1:p.Glu1212Lys
ENST00000619499.4:c.3730G>A	ENSP00000482132.1:p.Glu1244Lys
NM_001999.3:c.3733G>A	NP_001990.2:p.Glu1245Lys
XM_017009228.2:c.3580G>A	XP_016864717.1:p.Glu1194Lys
NM_001999.4:c.3733G>A MANE Select	NP_001990.2:p.Glu1245Lys