Canonical Allele Identifier: CA360759585

Gene: FBN2

Linked Data

• ClinVar Variation Id: 458759
• ClinVar RCV Id: RCV000549680 ; RCV001090286 ; RCV000765799
• dbSNP Id: rs1554123065
• gnomAD v4: 5-128338114-C-T
• COSMIC: COSM3136161 ; COSM3136162
• MyVariant Identifiers: chr5:g.127673806C>T (hg19) ; chr5:g.128338114C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128338114C>T , CM000667.2:g.128338114C>T	GRCh38
NC_000005.9:g.127673806C>T , CM000667.1:g.127673806C>T	GRCh37
NC_000005.8:g.127701705C>T	NCBI36
NG_008750.1:g.204930G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.265G>A
ENST00000703785.1:n.346G>A
ENST00000262464.9:c.3481G>A MANE Select	ENSP00000262464.4:p.Glu1161Lys
ENST00000262464.8:c.3481G>A	ENSP00000262464.4:p.Glu1161Lys
ENST00000507835.5:c.31G>A	ENSP00000426839.1:p.Glu11Lys
ENST00000508053.5:c.3481G>A	ENSP00000424571.1:p.Glu1161Lys
ENST00000508989.5:c.3382G>A	ENSP00000425596.1:p.Glu1128Lys
ENST00000619499.4:c.3478G>A	ENSP00000482132.1:p.Glu1160Lys
NM_001999.3:c.3481G>A	NP_001990.2:p.Glu1161Lys
XM_017009228.2:c.3328G>A	XP_016864717.1:p.Glu1110Lys
NM_001999.4:c.3481G>A MANE Select	NP_001990.2:p.Glu1161Lys