Canonical Allele Identifier: CA360767423

Gene: FBN2

Linked Data

• MyVariant Identifiers: chr5:g.127693034G>T (hg19) ; chr5:g.128357342G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128357342G>T , CM000667.2:g.128357342G>T	GRCh38
NC_000005.9:g.127693034G>T , CM000667.1:g.127693034G>T	GRCh37
NC_000005.8:g.127720933G>T	NCBI36
NG_008750.1:g.185702C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262464.9:c.2608C>A MANE Select	ENSP00000262464.4:p.Leu870Ile
ENST00000262464.8:c.2608C>A	ENSP00000262464.4:p.Leu870Ile
ENST00000508053.5:c.2608C>A	ENSP00000424571.1:p.Leu870Ile
ENST00000508989.5:c.2509C>A	ENSP00000425596.1:p.Leu837Ile
ENST00000619499.4:c.2605C>A	ENSP00000482132.1:p.Leu869Ile
NM_001999.3:c.2608C>A	NP_001990.2:p.Leu870Ile
XM_017009228.2:c.2455C>A	XP_016864717.1:p.Leu819Ile
NM_001999.4:c.2608C>A MANE Select	NP_001990.2:p.Leu870Ile