Canonical Allele Identifier: CA360759500

Gene: FBN2

Linked Data

• MyVariant Identifiers: chr5:g.127673788G>T (hg19) ; chr5:g.128338096G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128338096G>T , CM000667.2:g.128338096G>T	GRCh38
NC_000005.9:g.127673788G>T , CM000667.1:g.127673788G>T	GRCh37
NC_000005.8:g.127701687G>T	NCBI36
NG_008750.1:g.204948C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.283C>A
ENST00000703785.1:n.364C>A
ENST00000262464.9:c.3499C>A MANE Select	ENSP00000262464.4:p.Leu1167Ile
ENST00000262464.8:c.3499C>A	ENSP00000262464.4:p.Leu1167Ile
ENST00000507835.5:c.49C>A	ENSP00000426839.1:p.Leu17Ile
ENST00000508053.5:c.3499C>A	ENSP00000424571.1:p.Leu1167Ile
ENST00000508989.5:c.3400C>A	ENSP00000425596.1:p.Leu1134Ile
ENST00000619499.4:c.3496C>A	ENSP00000482132.1:p.Leu1166Ile
NM_001999.3:c.3499C>A	NP_001990.2:p.Leu1167Ile
XM_017009228.2:c.3346C>A	XP_016864717.1:p.Leu1116Ile
NM_001999.4:c.3499C>A MANE Select	NP_001990.2:p.Leu1167Ile