Canonical Allele Identifier: CA211147

Gene: FBN2

Linked Data

• ClinVar Variation Id: 137341
• ClinVar RCV Id: RCV000178522 ; RCV000229763 ; RCV001795235 ; RCV002277260 ; RCV002310701 ; RCV000659627
• dbSNP Id: rs35346129
• ExAC: 5:127641567 G / A
• gnomAD v2: 5-127641567-G-A
• gnomAD v3: 5-128305875-G-A
• gnomAD v4: 5-128305875-G-A
• MyVariant Identifiers: chr5:g.127641567G>A (hg19) ; chr5:g.128305875G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128305875G>A , CM000667.2:g.128305875G>A	GRCh38
NC_000005.9:g.127641567G>A , CM000667.1:g.127641567G>A	GRCh37
NC_000005.8:g.127669466G>A	NCBI36
NG_008750.1:g.237169C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.2280C>T
ENST00000703785.1:n.2199C>T
ENST00000262464.9:c.5496C>T MANE Select	ENSP00000262464.4:p.Arg1832=
ENST00000262464.8:c.5496C>T	ENSP00000262464.4:p.Arg1832=
ENST00000508053.5:c.5496C>T	ENSP00000424571.1:p.Arg1832=
ENST00000619499.4:c.5493C>T	ENSP00000482132.1:p.Arg1831=
NM_001999.3:c.5496C>T	NP_001990.2:p.Arg1832=
XM_017009228.2:c.5343C>T	XP_016864717.1:p.Arg1781=
NM_001999.4:c.5496C>T MANE Select	NP_001990.2:p.Arg1832=