Canonical Allele Identifier: CA650271459

Gene: FBN2

Linked Data

• COSMIC: COSN20086797

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335349C>A , CM000667.2:g.128335349C>A	GRCh38
NC_000005.9:g.127671041C>A , CM000667.1:g.127671041C>A	GRCh37
NC_000005.8:g.127698940C>A	NCBI36
NG_008750.1:g.207695G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.632-54G>T
ENST00000703785.1:n.713-54G>T
ENST00000262464.9:c.3848-54G>T MANE Select	ENSP00000262464.4:n.3848-54G>T
ENST00000262464.8:c.3848-54G>T	ENSP00000262464.4:n.3848-54G>T
ENST00000507835.5:c.398-54G>T	ENSP00000426839.1:n.398-54G>T
ENST00000508053.5:c.3848-54G>T	ENSP00000424571.1:n.3848-54G>T
ENST00000508989.5:c.3749-54G>T	ENSP00000425596.1:n.3749-54G>T
ENST00000619499.4:c.3845-54G>T	ENSP00000482132.1:n.3845-54G>T
NM_001999.3:c.3848-54G>T	NP_001990.2:n.3848-54G>T
XM_017009228.2:c.3695-54G>T	XP_016864717.1:n.3695-54G>T
NM_001999.4:c.3848-54G>T MANE Select	NP_001990.2:n.3848-54G>T