Canonical Allele Identifier: CA446312337

Gene: FBN2

Linked Data

• MyVariant Identifiers: chr5:g.127693032A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128357340A>T , CM000667.2:g.128357340A>T	GRCh38
NC_000005.9:g.127693032A>T , CM000667.1:g.127693032A>T	GRCh37
NC_000005.8:g.127720931A>T	NCBI36
NG_008750.1:g.185704T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262464.9:c.2610T>A MANE Select	ENSP00000262464.4:p.Leu870=
ENST00000262464.8:c.2610T>A	ENSP00000262464.4:p.Leu870=
ENST00000508053.5:c.2610T>A	ENSP00000424571.1:p.Leu870=
ENST00000508989.5:c.2511T>A	ENSP00000425596.1:p.Leu837=
ENST00000619499.4:c.2607T>A	ENSP00000482132.1:p.Leu869=
NM_001999.3:c.2610T>A	NP_001990.2:p.Leu870=
XM_017009228.2:c.2457T>A	XP_016864717.1:p.Leu819=
NM_001999.4:c.2610T>A MANE Select	NP_001990.2:p.Leu870=