Canonical Allele Identifier: CA360755095

Gene: FBN2

Linked Data

• MyVariant Identifiers: chr5:g.127668672A>T (hg19) ; chr5:g.128332980A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128332980A>T , CM000667.2:g.128332980A>T	GRCh38
NC_000005.9:g.127668672A>T , CM000667.1:g.127668672A>T	GRCh37
NC_000005.8:g.127696571A>T	NCBI36
NG_008750.1:g.210064T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.938T>A
ENST00000703785.1:n.1019T>A
ENST00000262464.9:c.4154T>A MANE Select	ENSP00000262464.4:p.Leu1385Gln
ENST00000262464.8:c.4154T>A	ENSP00000262464.4:p.Leu1385Gln
ENST00000507835.5:c.704T>A	ENSP00000426839.1:p.Leu235Gln
ENST00000508053.5:c.4154T>A	ENSP00000424571.1:p.Leu1385Gln
ENST00000508989.5:c.4055T>A	ENSP00000425596.1:p.Leu1352Gln
ENST00000619499.4:c.4151T>A	ENSP00000482132.1:p.Leu1384Gln
NM_001999.3:c.4154T>A	NP_001990.2:p.Leu1385Gln
XM_017009228.2:c.4001T>A	XP_016864717.1:p.Leu1334Gln
NM_001999.4:c.4154T>A MANE Select	NP_001990.2:p.Leu1385Gln