Canonical Allele Identifier: CA650269984

Gene: FBN2

Linked Data

• COSMIC: COSN9924943

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128339089A>G , CM000667.2:g.128339089A>G	GRCh38
NC_000005.9:g.127674781A>G , CM000667.1:g.127674781A>G	GRCh37
NC_000005.8:g.127702680A>G	NCBI36
NG_008750.1:g.203955T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.100T>C
ENST00000703785.1:n.181T>C
ENST00000262464.9:c.3344-28T>C MANE Select	ENSP00000262464.4:n.3344-28T>C
ENST00000262464.8:c.3344-28T>C	ENSP00000262464.4:n.3344-28T>C
ENST00000507835.5:c.-135T>C	ENSP00000426839.1:n.-135T>C
ENST00000508053.5:c.3344-28T>C	ENSP00000424571.1:n.3344-28T>C
ENST00000508989.5:c.3245-28T>C	ENSP00000425596.1:n.3245-28T>C
ENST00000619499.4:c.3341-28T>C	ENSP00000482132.1:n.3341-28T>C
NM_001999.3:c.3344-28T>C	NP_001990.2:n.3344-28T>C
XM_017009228.2:c.3191-28T>C	XP_016864717.1:n.3191-28T>C
NM_001999.4:c.3344-28T>C MANE Select	NP_001990.2:n.3344-28T>C