Canonical Allele Identifier: CA323011

Gene: FBN2

Linked Data

• ClinVar Variation Id: 213364
• ClinVar RCV Id: RCV000198498 ; RCV001088783 ; RCV002277529 ; RCV002277530 ; RCV002399726 ; RCV003947620
• dbSNP Id: rs373970388
• ExAC: 5:127610280 G / C
• gnomAD v2: 5-127610280-G-C
• gnomAD v3: 5-128274588-G-C
• gnomAD v4: 5-128274588-G-C
• MyVariant Identifiers: chr5:g.127610280G>C (hg19) ; chr5:g.128274588G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128274588G>C , CM000667.2:g.128274588G>C	GRCh38
NC_000005.9:g.127610280G>C , CM000667.1:g.127610280G>C	GRCh37
NC_000005.8:g.127638179G>C	NCBI36
NG_008750.1:g.268456C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.4474C>G
ENST00000262464.9:c.7690C>G MANE Select	ENSP00000262464.4:p.Gln2564Glu
ENST00000262464.8:c.7690C>G	ENSP00000262464.4:p.Gln2564Glu
ENST00000508053.5:c.7690C>G	ENSP00000424571.1:p.Gln2564Glu
ENST00000619499.4:c.7687C>G	ENSP00000482132.1:p.Gln2563Glu
NM_001999.3:c.7690C>G	NP_001990.2:p.Gln2564Glu
XM_017009228.2:c.7537C>G	XP_016864717.1:p.Gln2513Glu
NM_001999.4:c.7690C>G MANE Select	NP_001990.2:p.Gln2564Glu