Canonical Allele Identifier: CA360757879

Gene: FBN2

Linked Data

• MyVariant Identifiers: chr5:g.127670987T>A (hg19) ; chr5:g.128335295T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335295T>A , CM000667.2:g.128335295T>A	GRCh38
NC_000005.9:g.127670987T>A , CM000667.1:g.127670987T>A	GRCh37
NC_000005.8:g.127698886T>A	NCBI36
NG_008750.1:g.207749A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.632A>T
ENST00000703785.1:n.713A>T
ENST00000262464.9:c.3848A>T MANE Select	ENSP00000262464.4:p.Asp1283Val
ENST00000262464.8:c.3848A>T	ENSP00000262464.4:p.Asp1283Val
ENST00000507835.5:c.398A>T	ENSP00000426839.1:p.Asp133Val
ENST00000508053.5:c.3848A>T	ENSP00000424571.1:p.Asp1283Val
ENST00000508989.5:c.3749A>T	ENSP00000425596.1:p.Asp1250Val
ENST00000619499.4:c.3845A>T	ENSP00000482132.1:p.Asp1282Val
NM_001999.3:c.3848A>T	NP_001990.2:p.Asp1283Val
XM_017009228.2:c.3695A>T	XP_016864717.1:p.Asp1232Val
NM_001999.4:c.3848A>T MANE Select	NP_001990.2:p.Asp1283Val