Canonical Allele Identifier: CA360754756

Gene: FBN2

Linked Data

• ClinVar Variation Id: 2574535
• ClinVar RCV Id: RCV003319117
• MyVariant Identifiers: chr5:g.127668631A>C (hg19) ; chr5:g.128332939A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128332939A>C , CM000667.2:g.128332939A>C	GRCh38
NC_000005.9:g.127668631A>C , CM000667.1:g.127668631A>C	GRCh37
NC_000005.8:g.127696530A>C	NCBI36
NG_008750.1:g.210105T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.979T>G
ENST00000703785.1:n.1060T>G
ENST00000262464.9:c.4195T>G MANE Select	ENSP00000262464.4:p.Trp1399Gly
ENST00000262464.8:c.4195T>G	ENSP00000262464.4:p.Trp1399Gly
ENST00000507835.5:c.745T>G	ENSP00000426839.1:p.Trp249Gly
ENST00000508053.5:c.4195T>G	ENSP00000424571.1:p.Trp1399Gly
ENST00000508989.5:c.4096T>G	ENSP00000425596.1:p.Trp1366Gly
ENST00000619499.4:c.4192T>G	ENSP00000482132.1:p.Trp1398Gly
NM_001999.3:c.4195T>G	NP_001990.2:p.Trp1399Gly
XM_017009228.2:c.4042T>G	XP_016864717.1:p.Trp1348Gly
NM_001999.4:c.4195T>G MANE Select	NP_001990.2:p.Trp1399Gly