Canonical Allele Identifier: CA2581508524

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128393081T>A , CM000667.2:g.128393081T>A	GRCh38
NC_000005.9:g.127728774T>A , CM000667.1:g.127728774T>A	GRCh37
NC_000005.8:g.127756673T>A	NCBI36
NG_008750.1:g.149962A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000703787.1:n.1172+54A>T
ENST00000262464.9:c.1465+54A>T MANE Select	ENSP00000262464.4:n.1465+54A>T
ENST00000262464.8:c.1465+54A>T	ENSP00000262464.4:n.1465+54A>T
ENST00000508053.5:c.1465+54A>T	ENSP00000424571.1:n.1465+54A>T
ENST00000508989.5:c.1366+54A>T	ENSP00000425596.1:n.1366+54A>T
ENST00000619499.4:c.1462+54A>T	ENSP00000482132.1:n.1462+54A>T
NM_001999.3:c.1465+54A>T	NP_001990.2:n.1465+54A>T
XM_017009228.2:c.1312+54A>T	XP_016864717.1:n.1312+54A>T
NM_001999.4:c.1465+54A>T MANE Select	NP_001990.2:n.1465+54A>T