Canonical Allele Identifier: CA360757489

Gene: FBN2

Linked Data

• MyVariant Identifiers: chr5:g.127670954C>A (hg19) ; chr5:g.128335262C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335262C>A , CM000667.2:g.128335262C>A	GRCh38
NC_000005.9:g.127670954C>A , CM000667.1:g.127670954C>A	GRCh37
NC_000005.8:g.127698853C>A	NCBI36
NG_008750.1:g.207782G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.665G>T
ENST00000703785.1:n.746G>T
ENST00000262464.9:c.3881G>T MANE Select	ENSP00000262464.4:p.Cys1294Phe
ENST00000262464.8:c.3881G>T	ENSP00000262464.4:p.Cys1294Phe
ENST00000507835.5:c.431G>T	ENSP00000426839.1:p.Cys144Phe
ENST00000508053.5:c.3881G>T	ENSP00000424571.1:p.Cys1294Phe
ENST00000508989.5:c.3782G>T	ENSP00000425596.1:p.Cys1261Phe
ENST00000619499.4:c.3878G>T	ENSP00000482132.1:p.Cys1293Phe
NM_001999.3:c.3881G>T	NP_001990.2:p.Cys1294Phe
XM_017009228.2:c.3728G>T	XP_016864717.1:p.Cys1243Phe
NM_001999.4:c.3881G>T MANE Select	NP_001990.2:p.Cys1294Phe