Canonical Allele Identifier: CA3395113

Gene: FBN2

Linked Data

• ClinVar Variation Id: 377867
• ClinVar RCV Id: RCV000423562 ; RCV000633641 ; RCV002278657 ; RCV003950352
• dbSNP Id: rs140017238
• ExAC: 5:127670997 C / T
• gnomAD v2: 5-127670997-C-T
• gnomAD v3: 5-128335305-C-T
• gnomAD v4: 5-128335305-C-T
• MyVariant Identifiers: chr5:g.127670997C>T (hg19) ; chr5:g.128335305C>T (hg38)

Genomic Alleles

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

Transcript Alleles

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