Canonical Allele Identifier: CA360758491

Gene: FBN2

Linked Data

• MyVariant Identifiers: chr5:g.127863575A>T (hg19) ; chr5:g.128527882A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128527882A>T , CM000667.2:g.128527882A>T	GRCh38
NC_000005.9:g.127863575A>T , CM000667.1:g.127863575A>T	GRCh37
NC_000005.8:g.127891474A>T	NCBI36
NG_008750.1:g.15161T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000508053.6:c.522T>A	ENSP00000424571.2:p.Tyr174Ter
ENST00000703787.1:n.229T>A
ENST00000262464.9:c.522T>A MANE Select	ENSP00000262464.4:p.Tyr174Ter
ENST00000262464.8:c.522T>A	ENSP00000262464.4:p.Tyr174Ter
ENST00000502468.5:c.522T>A	ENSP00000424753.1:p.Tyr174Ter
ENST00000508053.5:c.522T>A	ENSP00000424571.1:p.Tyr174Ter
ENST00000508989.5:c.423T>A	ENSP00000425596.1:p.Tyr141Ter
ENST00000514742.1:n.1142T>A
ENST00000619499.4:c.522T>A	ENSP00000482132.1:p.Tyr174Ter
ENST00000620257.1:c.522T>A	ENSP00000479157.1:p.Tyr174Ter
NM_001999.3:c.522T>A	NP_001990.2:p.Tyr174Ter
XM_017009228.2:c.522T>A	XP_016864717.1:p.Tyr174Ter
NM_001999.4:c.522T>A MANE Select	NP_001990.2:p.Tyr174Ter