Canonical Allele Identifier: CA446309541

Gene: FBN2

Linked Data

• MyVariant Identifiers: chr5:g.127668707A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128333015A>G , CM000667.2:g.128333015A>G	GRCh38
NC_000005.9:g.127668707A>G , CM000667.1:g.127668707A>G	GRCh37
NC_000005.8:g.127696606A>G	NCBI36
NG_008750.1:g.210029T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.903T>C
ENST00000703785.1:n.984T>C
ENST00000262464.9:c.4119T>C MANE Select	ENSP00000262464.4:p.Ile1373=
ENST00000262464.8:c.4119T>C	ENSP00000262464.4:p.Ile1373=
ENST00000507835.5:c.669T>C	ENSP00000426839.1:p.Ile223=
ENST00000508053.5:c.4119T>C	ENSP00000424571.1:p.Ile1373=
ENST00000508989.5:c.4020T>C	ENSP00000425596.1:p.Ile1340=
ENST00000619499.4:c.4116T>C	ENSP00000482132.1:p.Ile1372=
NM_001999.3:c.4119T>C	NP_001990.2:p.Ile1373=
XM_017009228.2:c.3966T>C	XP_016864717.1:p.Ile1322=
NM_001999.4:c.4119T>C MANE Select	NP_001990.2:p.Ile1373=