Canonical Allele Identifier: CA360758191

Gene: FBN2

Linked Data

• ClinVar Variation Id: 519834
• ClinVar RCV Id: RCV001220794 ; RCV002313315
• dbSNP Id: rs1554122896
• MyVariant Identifiers: chr5:g.127671685C>T (hg19) ; chr5:g.128335993C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335993C>T , CM000667.2:g.128335993C>T	GRCh38
NC_000005.9:g.127671685C>T , CM000667.1:g.127671685C>T	GRCh37
NC_000005.8:g.127699584C>T	NCBI36
NG_008750.1:g.207051G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.503G>A
ENST00000703785.1:n.584G>A
ENST00000262464.9:c.3719G>A MANE Select	ENSP00000262464.4:p.Cys1240Tyr
ENST00000262464.8:c.3719G>A	ENSP00000262464.4:p.Cys1240Tyr
ENST00000507835.5:c.269G>A	ENSP00000426839.1:p.Cys90Tyr
ENST00000508053.5:c.3719G>A	ENSP00000424571.1:p.Cys1240Tyr
ENST00000508989.5:c.3620G>A	ENSP00000425596.1:p.Cys1207Tyr
ENST00000619499.4:c.3716G>A	ENSP00000482132.1:p.Cys1239Tyr
NM_001999.3:c.3719G>A	NP_001990.2:p.Cys1240Tyr
XM_017009228.2:c.3566G>A	XP_016864717.1:p.Cys1189Tyr
NM_001999.4:c.3719G>A MANE Select	NP_001990.2:p.Cys1240Tyr