Canonical Allele Identifier: CA16605259

Gene: FBN2

Linked Data

• ClinVar Variation Id: 381757
• ClinVar RCV Id: RCV000428673 ; RCV002525331
• dbSNP Id: rs1057521162
• gnomAD v3: 5-128309402-A-G
• gnomAD v4: 5-128309402-A-G
• MyVariant Identifiers: chr5:g.127645094A>G (hg19) ; chr5:g.128309402A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128309402A>G , CM000667.2:g.128309402A>G	GRCh38
NC_000005.9:g.127645094A>G , CM000667.1:g.127645094A>G	GRCh37
NC_000005.8:g.127672993A>G	NCBI36
NG_008750.1:g.233642T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.1985-3T>C
ENST00000703785.1:n.1904-3T>C
ENST00000262464.9:c.5201-3T>C MANE Select	ENSP00000262464.4:n.5201-3T>C
ENST00000262464.8:c.5201-3T>C	ENSP00000262464.4:n.5201-3T>C
ENST00000508053.5:c.5201-3T>C	ENSP00000424571.1:n.5201-3T>C
ENST00000619499.4:c.5198-3T>C	ENSP00000482132.1:n.5198-3T>C
NM_001999.3:c.5201-3T>C	NP_001990.2:n.5201-3T>C
XM_017009228.2:c.5048-3T>C	XP_016864717.1:n.5048-3T>C
NM_001999.4:c.5201-3T>C MANE Select	NP_001990.2:n.5201-3T>C