Canonical Allele Identifier: CA360750440

Gene: FBN2

Linked Data

• MyVariant Identifiers: chr5:g.127654624T>A (hg19) ; chr5:g.128318932T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128318932T>A , CM000667.2:g.128318932T>A	GRCh38
NC_000005.9:g.127654624T>A , CM000667.1:g.127654624T>A	GRCh37
NC_000005.8:g.127682523T>A	NCBI36
NG_008750.1:g.224112A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.1325A>T
ENST00000703785.1:n.1406A>T
ENST00000262464.9:c.4541A>T MANE Select	ENSP00000262464.4:p.His1514Leu
ENST00000262464.8:c.4541A>T	ENSP00000262464.4:p.His1514Leu
ENST00000508053.5:c.4541A>T	ENSP00000424571.1:p.His1514Leu
ENST00000619499.4:c.4538A>T	ENSP00000482132.1:p.His1513Leu
NM_001999.3:c.4541A>T	NP_001990.2:p.His1514Leu
XM_017009228.2:c.4388A>T	XP_016864717.1:p.His1463Leu
NM_001999.4:c.4541A>T MANE Select	NP_001990.2:p.His1514Leu