Canonical Allele Identifier: CA3395144

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335560T>C , CM000667.2:g.128335560T>C	GRCh38
NC_000005.9:g.127671252T>C , CM000667.1:g.127671252T>C	GRCh37
NC_000005.8:g.127699151T>C	NCBI36
NG_008750.1:g.207484A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001999.4:c.3742A>G MANE Select	NP_001990.2:p.Ile1248Val
ENST00000262464.9:c.3742A>G MANE Select	ENSP00000262464.4:p.Ile1248Val
NM_001999.3:c.3742A>G	NP_001990.2:p.Ile1248Val
ENST00000262464.8:c.3742A>G	ENSP00000262464.4:p.Ile1248Val
ENST00000507835.5:c.292A>G	ENSP00000426839.1:p.Ile98Val
ENST00000508053.5:c.3742A>G	ENSP00000424571.1:p.Ile1248Val
ENST00000508989.5:c.3643A>G	ENSP00000425596.1:p.Ile1215Val
ENST00000619499.4:c.3739A>G	ENSP00000482132.1:p.Ile1247Val
ENST00000703783.1:n.526A>G
ENST00000703785.1:n.607A>G
XM_017009228.2:c.3589A>G	XP_016864717.1:p.Ile1197Val