Canonical Allele Identifier: CA360758125

Gene: FBN2

Linked Data

• MyVariant Identifiers: chr5:g.127671252T>G (hg19) ; chr5:g.128335560T>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.526A>C
ENST00000703785.1:n.607A>C
ENST00000262464.9:c.3742A>C MANE Select	ENSP00000262464.4:p.Ile1248Leu
ENST00000262464.8:c.3742A>C	ENSP00000262464.4:p.Ile1248Leu
ENST00000507835.5:c.292A>C	ENSP00000426839.1:p.Ile98Leu
ENST00000508053.5:c.3742A>C	ENSP00000424571.1:p.Ile1248Leu
ENST00000508989.5:c.3643A>C	ENSP00000425596.1:p.Ile1215Leu
ENST00000619499.4:c.3739A>C	ENSP00000482132.1:p.Ile1247Leu
NM_001999.3:c.3742A>C	NP_001990.2:p.Ile1248Leu
XM_017009228.2:c.3589A>C	XP_016864717.1:p.Ile1197Leu
NM_001999.4:c.3742A>C MANE Select	NP_001990.2:p.Ile1248Leu