Canonical Allele Identifier: CA360758508

Gene: FBN2

Linked Data

• ClinVar Variation Id: 1702411
• ClinVar RCV Id: RCV002278729
• dbSNP Id: rs1756603412
• gnomAD v3: 5-128527891-A-C
• gnomAD v4: 5-128527891-A-C
• MyVariant Identifiers: chr5:g.127863584A>C (hg19) ; chr5:g.128527891A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128527891A>C , CM000667.2:g.128527891A>C	GRCh38
NC_000005.9:g.127863584A>C , CM000667.1:g.127863584A>C	GRCh37
NC_000005.8:g.127891483A>C	NCBI36
NG_008750.1:g.15152T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000508053.6:c.513T>G	ENSP00000424571.2:p.Ile171Met
ENST00000703787.1:n.220T>G
ENST00000262464.9:c.513T>G MANE Select	ENSP00000262464.4:p.Ile171Met
ENST00000262464.8:c.513T>G	ENSP00000262464.4:p.Ile171Met
ENST00000502468.5:c.513T>G	ENSP00000424753.1:p.Ile171Met
ENST00000508053.5:c.513T>G	ENSP00000424571.1:p.Ile171Met
ENST00000508989.5:c.414T>G	ENSP00000425596.1:p.Ile138Met
ENST00000514742.1:n.1133T>G
ENST00000619499.4:c.513T>G	ENSP00000482132.1:p.Ile171Met
ENST00000620257.1:c.513T>G	ENSP00000479157.1:p.Ile171Met
NM_001999.3:c.513T>G	NP_001990.2:p.Ile171Met
XM_017009228.2:c.513T>G	XP_016864717.1:p.Ile171Met
NM_001999.4:c.513T>G MANE Select	NP_001990.2:p.Ile171Met