Canonical Allele Identifier: CA360759716

Gene: FBN2

Linked Data

• ClinVar Variation Id: 458758
• ClinVar RCV Id: RCV000537065 ; RCV003409774
• dbSNP Id: rs1554123136
• MyVariant Identifiers: chr5:g.127674624C>T (hg19) ; chr5:g.128338932C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128338932C>T , CM000667.2:g.128338932C>T	GRCh38
NC_000005.9:g.127674624C>T , CM000667.1:g.127674624C>T	GRCh37
NC_000005.8:g.127702523C>T	NCBI36
NG_008750.1:g.204112G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.256+1G>A
ENST00000703785.1:n.337+1G>A
ENST00000262464.9:c.3472+1G>A MANE Select	ENSP00000262464.4:n.3472+1G>A
ENST00000262464.8:c.3472+1G>A	ENSP00000262464.4:n.3472+1G>A
ENST00000507835.5:c.22+1G>A	ENSP00000426839.1:n.22+1G>A
ENST00000508053.5:c.3472+1G>A	ENSP00000424571.1:n.3472+1G>A
ENST00000508989.5:c.3373+1G>A	ENSP00000425596.1:n.3373+1G>A
ENST00000619499.4:c.3469+1G>A	ENSP00000482132.1:n.3469+1G>A
NM_001999.3:c.3472+1G>A	NP_001990.2:n.3472+1G>A
XM_017009228.2:c.3319+1G>A	XP_016864717.1:n.3319+1G>A
NM_001999.4:c.3472+1G>A MANE Select	NP_001990.2:n.3472+1G>A