Canonical Allele Identifier: CA360767427

Gene: FBN2

Linked Data

• ClinVar Variation Id: 1793725
• ClinVar RCV Id: RCV002426293 ; RCV003641047
• gnomAD v4: 5-128357344-T-G
• MyVariant Identifiers: chr5:g.127693036T>G (hg19) ; chr5:g.128357344T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128357344T>G , CM000667.2:g.128357344T>G	GRCh38
NC_000005.9:g.127693036T>G , CM000667.1:g.127693036T>G	GRCh37
NC_000005.8:g.127720935T>G	NCBI36
NG_008750.1:g.185700A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000262464.9:c.2606A>C MANE Select	ENSP00000262464.4:p.Asn869Thr
ENST00000262464.8:c.2606A>C	ENSP00000262464.4:p.Asn869Thr
ENST00000508053.5:c.2606A>C	ENSP00000424571.1:p.Asn869Thr
ENST00000508989.5:c.2507A>C	ENSP00000425596.1:p.Asn836Thr
ENST00000619499.4:c.2603A>C	ENSP00000482132.1:p.Asn868Thr
NM_001999.3:c.2606A>C	NP_001990.2:p.Asn869Thr
XM_017009228.2:c.2453A>C	XP_016864717.1:p.Asn818Thr
NM_001999.4:c.2606A>C MANE Select	NP_001990.2:p.Asn869Thr