Canonical Allele Identifier: CA360757902

Gene: FBN2

Linked Data

• MyVariant Identifiers: chr5:g.127671152C>A (hg19) ; chr5:g.128335460C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335460C>A , CM000667.2:g.128335460C>A	GRCh38
NC_000005.9:g.127671152C>A , CM000667.1:g.127671152C>A	GRCh37
NC_000005.8:g.127699051C>A	NCBI36
NG_008750.1:g.207584G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.626G>T
ENST00000703785.1:n.707G>T
ENST00000262464.9:c.3842G>T MANE Select	ENSP00000262464.4:p.Cys1281Phe
ENST00000262464.8:c.3842G>T	ENSP00000262464.4:p.Cys1281Phe
ENST00000507835.5:c.392G>T	ENSP00000426839.1:p.Cys131Phe
ENST00000508053.5:c.3842G>T	ENSP00000424571.1:p.Cys1281Phe
ENST00000508989.5:c.3743G>T	ENSP00000425596.1:p.Cys1248Phe
ENST00000619499.4:c.3839G>T	ENSP00000482132.1:p.Cys1280Phe
NM_001999.3:c.3842G>T	NP_001990.2:p.Cys1281Phe
XM_017009228.2:c.3689G>T	XP_016864717.1:p.Cys1230Phe
NM_001999.4:c.3842G>T MANE Select	NP_001990.2:p.Cys1281Phe