Canonical Allele Identifier: CA3394684

Gene: FBN2

Linked Data

• ClinVar Variation Id: 487469
• ClinVar RCV Id: RCV000576804 ; RCV001551500 ; RCV002483546
• dbSNP Id: rs778519094
• ExAC: 5:127641569 G / A
• gnomAD v2: 5-127641569-G-A
• gnomAD v3: 5-128305877-G-A
• gnomAD v4: 5-128305877-G-A
• MyVariant Identifiers: chr5:g.127641569G>A (hg19) ; chr5:g.128305877G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128305877G>A , CM000667.2:g.128305877G>A	GRCh38
NC_000005.9:g.127641569G>A , CM000667.1:g.127641569G>A	GRCh37
NC_000005.8:g.127669468G>A	NCBI36
NG_008750.1:g.237167C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.2278C>T
ENST00000703785.1:n.2197C>T
ENST00000262464.9:c.5494C>T MANE Select	ENSP00000262464.4:p.Arg1832Cys
ENST00000262464.8:c.5494C>T	ENSP00000262464.4:p.Arg1832Cys
ENST00000508053.5:c.5494C>T	ENSP00000424571.1:p.Arg1832Cys
ENST00000619499.4:c.5491C>T	ENSP00000482132.1:p.Arg1831Cys
NM_001999.3:c.5494C>T	NP_001990.2:p.Arg1832Cys
XM_017009228.2:c.5341C>T	XP_016864717.1:p.Arg1781Cys
NM_001999.4:c.5494C>T MANE Select	NP_001990.2:p.Arg1832Cys