Canonical Allele Identifier: CA290868

Gene: FBN2

Linked Data

• ClinVar Variation Id: 137326
• ClinVar RCV Id: RCV001812038 ; RCV002277254 ; RCV002483247
• dbSNP Id: rs140017238
• ExAC: 5:127670997 C / A
• gnomAD v2: 5-127670997-C-A
• gnomAD v3: 5-128335305-C-A
• gnomAD v4: 5-128335305-C-A
• MyVariant Identifiers: chr5:g.127670997C>A (hg19) ; chr5:g.128335305C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335305C>A , CM000667.2:g.128335305C>A	GRCh38
NC_000005.9:g.127670997C>A , CM000667.1:g.127670997C>A	GRCh37
NC_000005.8:g.127698896C>A	NCBI36
NG_008750.1:g.207739G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.632-10G>T
ENST00000703785.1:n.713-10G>T
ENST00000262464.9:c.3848-10G>T MANE Select	ENSP00000262464.4:n.3848-10G>T
ENST00000262464.8:c.3848-10G>T	ENSP00000262464.4:n.3848-10G>T
ENST00000507835.5:c.398-10G>T	ENSP00000426839.1:n.398-10G>T
ENST00000508053.5:c.3848-10G>T	ENSP00000424571.1:n.3848-10G>T
ENST00000508989.5:c.3749-10G>T	ENSP00000425596.1:n.3749-10G>T
ENST00000619499.4:c.3845-10G>T	ENSP00000482132.1:n.3845-10G>T
NM_001999.3:c.3848-10G>T	NP_001990.2:n.3848-10G>T
XM_017009228.2:c.3695-10G>T	XP_016864717.1:n.3695-10G>T
NM_001999.4:c.3848-10G>T MANE Select	NP_001990.2:n.3848-10G>T