Canonical Allele Identifier: CA321818

Gene: FBN2

Linked Data

• ClinVar Variation Id: 213313
• ClinVar RCV Id: RCV000197367 ; RCV002336530 ; RCV003525874
• dbSNP Id: rs863223567
• gnomAD v4: 5-128338002-C-T
• MyVariant Identifiers: chr5:g.127673694C>T (hg19) ; chr5:g.128338002C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128338002C>T , CM000667.2:g.128338002C>T	GRCh38
NC_000005.9:g.127673694C>T , CM000667.1:g.127673694C>T	GRCh37
NC_000005.8:g.127701593C>T	NCBI36
NG_008750.1:g.205042G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.377G>A
ENST00000703785.1:n.458G>A
ENST00000262464.9:c.3593G>A MANE Select	ENSP00000262464.4:p.Cys1198Tyr
ENST00000262464.8:c.3593G>A	ENSP00000262464.4:p.Cys1198Tyr
ENST00000507835.5:c.143G>A	ENSP00000426839.1:p.Cys48Tyr
ENST00000508053.5:c.3593G>A	ENSP00000424571.1:p.Cys1198Tyr
ENST00000508989.5:c.3494G>A	ENSP00000425596.1:p.Cys1165Tyr
ENST00000619499.4:c.3590G>A	ENSP00000482132.1:p.Cys1197Tyr
NM_001999.3:c.3593G>A	NP_001990.2:p.Cys1198Tyr
XM_017009228.2:c.3440G>A	XP_016864717.1:p.Cys1147Tyr
NM_001999.4:c.3593G>A MANE Select	NP_001990.2:p.Cys1198Tyr