Canonical Allele Identifier: CA3393820

Gene: FBN2

Linked Data

• ClinVar Variation Id: 350759
• ClinVar RCV Id: RCV000274441 ; RCV000765797 ; RCV000998425 ; RCV002436212 ; RCV002278581
• dbSNP Id: rs142747169
• ExAC: 5:127595510 G / C
• gnomAD v2: 5-127595510-G-C
• gnomAD v3: 5-128259818-G-C
• gnomAD v4: 5-128259818-G-C
• MyVariant Identifiers: chr5:g.127595510G>C (hg19) ; chr5:g.128259818G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128259818G>C , CM000667.2:g.128259818G>C	GRCh38
NC_000005.9:g.127595510G>C , CM000667.1:g.127595510G>C	GRCh37
NC_000005.8:g.127623409G>C	NCBI36
NG_008750.1:g.283226C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262464.9:c.8376C>G MANE Select	ENSP00000262464.4:p.Ile2792Met
ENST00000262464.8:c.8376C>G	ENSP00000262464.4:p.Ile2792Met
ENST00000508053.5:c.8376C>G	ENSP00000424571.1:p.Ile2792Met
ENST00000619499.4:c.8373C>G	ENSP00000482132.1:p.Ile2791Met
NM_001999.3:c.8376C>G	NP_001990.2:p.Ile2792Met
XM_017009228.2:c.8223C>G	XP_016864717.1:p.Ile2741Met
NM_001999.4:c.8376C>G MANE Select	NP_001990.2:p.Ile2792Met