Canonical Allele Identifier: CA360758034

Gene: FBN2

Linked Data

• MyVariant Identifiers: chr5:g.127671211C>A (hg19) ; chr5:g.128335519C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335519C>A , CM000667.2:g.128335519C>A	GRCh38
NC_000005.9:g.127671211C>A , CM000667.1:g.127671211C>A	GRCh37
NC_000005.8:g.127699110C>A	NCBI36
NG_008750.1:g.207525G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.567G>T
ENST00000703785.1:n.648G>T
ENST00000262464.9:c.3783G>T MANE Select	ENSP00000262464.4:p.Glu1261Asp
ENST00000262464.8:c.3783G>T	ENSP00000262464.4:p.Glu1261Asp
ENST00000507835.5:c.333G>T	ENSP00000426839.1:p.Glu111Asp
ENST00000508053.5:c.3783G>T	ENSP00000424571.1:p.Glu1261Asp
ENST00000508989.5:c.3684G>T	ENSP00000425596.1:p.Glu1228Asp
ENST00000619499.4:c.3780G>T	ENSP00000482132.1:p.Glu1260Asp
NM_001999.3:c.3783G>T	NP_001990.2:p.Glu1261Asp
XM_017009228.2:c.3630G>T	XP_016864717.1:p.Glu1210Asp
NM_001999.4:c.3783G>T MANE Select	NP_001990.2:p.Glu1261Asp