Canonical Allele Identifier: CA360754652

Gene: FBN2

Linked Data

• COSMIC: COSM3849853 ; COSM3849854
• MyVariant Identifiers: chr5:g.127668616T>C (hg19) ; chr5:g.128332924T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128332924T>C , CM000667.2:g.128332924T>C	GRCh38
NC_000005.9:g.127668616T>C , CM000667.1:g.127668616T>C	GRCh37
NC_000005.8:g.127696515T>C	NCBI36
NG_008750.1:g.210120A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.994A>G
ENST00000703785.1:n.1075A>G
ENST00000262464.9:c.4210A>G MANE Select	ENSP00000262464.4:p.Ile1404Val
ENST00000262464.8:c.4210A>G	ENSP00000262464.4:p.Ile1404Val
ENST00000507835.5:c.760A>G	ENSP00000426839.1:p.Ile254Val
ENST00000508053.5:c.4210A>G	ENSP00000424571.1:p.Ile1404Val
ENST00000508989.5:c.4111A>G	ENSP00000425596.1:p.Ile1371Val
ENST00000619499.4:c.4207A>G	ENSP00000482132.1:p.Ile1403Val
NM_001999.3:c.4210A>G	NP_001990.2:p.Ile1404Val
XM_017009228.2:c.4057A>G	XP_016864717.1:p.Ile1353Val
NM_001999.4:c.4210A>G MANE Select	NP_001990.2:p.Ile1404Val