Canonical Allele Identifier: CA360757894

Gene: FBN2

Linked Data

• MyVariant Identifiers: chr5:g.127671149G>A (hg19) ; chr5:g.128335457G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335457G>A , CM000667.2:g.128335457G>A	GRCh38
NC_000005.9:g.127671149G>A , CM000667.1:g.127671149G>A	GRCh37
NC_000005.8:g.127699048G>A	NCBI36
NG_008750.1:g.207587C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.629C>T
ENST00000703785.1:n.710C>T
ENST00000262464.9:c.3845C>T MANE Select	ENSP00000262464.4:p.Ala1282Val
ENST00000262464.8:c.3845C>T	ENSP00000262464.4:p.Ala1282Val
ENST00000507835.5:c.395C>T	ENSP00000426839.1:p.Ala132Val
ENST00000508053.5:c.3845C>T	ENSP00000424571.1:p.Ala1282Val
ENST00000508989.5:c.3746C>T	ENSP00000425596.1:p.Ala1249Val
ENST00000619499.4:c.3842C>T	ENSP00000482132.1:p.Ala1281Val
NM_001999.3:c.3845C>T	NP_001990.2:p.Ala1282Val
XM_017009228.2:c.3692C>T	XP_016864717.1:p.Ala1231Val
NM_001999.4:c.3845C>T MANE Select	NP_001990.2:p.Ala1282Val