Canonical Allele Identifier: CA323174

Gene: FBN2

Linked Data

• ClinVar Variation Id: 213305
• ClinVar RCV Id: RCV000198639 ; RCV000364863 ; RCV002277524 ; RCV002310786 ; RCV003330566
• dbSNP Id: rs202050092
• ExAC: 5:127680124 C / T
• gnomAD v2: 5-127680124-C-T
• gnomAD v3: 5-128344432-C-T
• gnomAD v4: 5-128344432-C-T
• MyVariant Identifiers: chr5:g.127680124C>T (hg19) ; chr5:g.128344432C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128344432C>T , CM000667.2:g.128344432C>T	GRCh38
NC_000005.9:g.127680124C>T , CM000667.1:g.127680124C>T	GRCh37
NC_000005.8:g.127708023C>T	NCBI36
NG_008750.1:g.198612G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262464.9:c.3296G>A MANE Select	ENSP00000262464.4:p.Arg1099His
ENST00000262464.8:c.3296G>A	ENSP00000262464.4:p.Arg1099His
ENST00000508053.5:c.3296G>A	ENSP00000424571.1:p.Arg1099His
ENST00000508989.5:c.3197G>A	ENSP00000425596.1:p.Arg1066His
ENST00000619499.4:c.3293G>A	ENSP00000482132.1:p.Arg1098His
NM_001999.3:c.3296G>A	NP_001990.2:p.Arg1099His
XM_017009228.2:c.3143G>A	XP_016864717.1:p.Arg1048His
NM_001999.4:c.3296G>A MANE Select	NP_001990.2:p.Arg1099His