Canonical Allele Identifier: CA360755362

Gene: FBN2

Linked Data

• MyVariant Identifiers: chr5:g.127668708A>C (hg19) ; chr5:g.128333016A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128333016A>C , CM000667.2:g.128333016A>C	GRCh38
NC_000005.9:g.127668708A>C , CM000667.1:g.127668708A>C	GRCh37
NC_000005.8:g.127696607A>C	NCBI36
NG_008750.1:g.210028T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.902T>G
ENST00000703785.1:n.983T>G
ENST00000262464.9:c.4118T>G MANE Select	ENSP00000262464.4:p.Ile1373Ser
ENST00000262464.8:c.4118T>G	ENSP00000262464.4:p.Ile1373Ser
ENST00000507835.5:c.668T>G	ENSP00000426839.1:p.Ile223Ser
ENST00000508053.5:c.4118T>G	ENSP00000424571.1:p.Ile1373Ser
ENST00000508989.5:c.4019T>G	ENSP00000425596.1:p.Ile1340Ser
ENST00000619499.4:c.4115T>G	ENSP00000482132.1:p.Ile1372Ser
NM_001999.3:c.4118T>G	NP_001990.2:p.Ile1373Ser
XM_017009228.2:c.3965T>G	XP_016864717.1:p.Ile1322Ser
NM_001999.4:c.4118T>G MANE Select	NP_001990.2:p.Ile1373Ser