Canonical Allele Identifier: CA322766

Gene: FBN2

Linked Data

• ClinVar Variation Id: 213370
• ClinVar RCV Id: RCV000347766 ; RCV000755536 ; RCV002277531 ; RCV002315587 ; RCV002252049
• dbSNP Id: rs201962592
• ExAC: 5:127597510 G / A
• gnomAD v2: 5-127597510-G-A
• gnomAD v3: 5-128261818-G-A
• gnomAD v4: 5-128261818-G-A
• MyVariant Identifiers: chr5:g.127597510G>A (hg19) ; chr5:g.128261818G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128261818G>A , CM000667.2:g.128261818G>A	GRCh38
NC_000005.9:g.127597510G>A , CM000667.1:g.127597510G>A	GRCh37
NC_000005.8:g.127625409G>A	NCBI36
NG_008750.1:g.281226C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262464.9:c.8282C>T MANE Select	ENSP00000262464.4:p.Ala2761Val
ENST00000262464.8:c.8282C>T	ENSP00000262464.4:p.Ala2761Val
ENST00000508053.5:c.8282C>T	ENSP00000424571.1:p.Ala2761Val
ENST00000619499.4:c.8279C>T	ENSP00000482132.1:p.Ala2760Val
NM_001999.3:c.8282C>T	NP_001990.2:p.Ala2761Val
XM_017009228.2:c.8129C>T	XP_016864717.1:p.Ala2710Val
NM_001999.4:c.8282C>T MANE Select	NP_001990.2:p.Ala2761Val