Canonical Allele Identifier: CA446309198

Gene: FBN2

Linked Data

• MyVariant Identifiers: chr5:g.127666305G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128330613G>T , CM000667.2:g.128330613G>T	GRCh38
NC_000005.9:g.127666305G>T , CM000667.1:g.127666305G>T	GRCh37
NC_000005.8:g.127694204G>T	NCBI36
NG_008750.1:g.212431C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.1089C>A
ENST00000703785.1:n.1170C>A
ENST00000262464.9:c.4305C>A MANE Select	ENSP00000262464.4:p.Ala1435=
ENST00000262464.8:c.4305C>A	ENSP00000262464.4:p.Ala1435=
ENST00000507835.5:c.855C>A	ENSP00000426839.1:p.Ala285=
ENST00000508053.5:c.4305C>A	ENSP00000424571.1:p.Ala1435=
ENST00000508989.5:c.4206C>A	ENSP00000425596.1:p.Ala1402=
ENST00000619499.4:c.4302C>A	ENSP00000482132.1:p.Ala1434=
NM_001999.3:c.4305C>A	NP_001990.2:p.Ala1435=
XM_017009228.2:c.4152C>A	XP_016864717.1:p.Ala1384=
NM_001999.4:c.4305C>A MANE Select	NP_001990.2:p.Ala1435=