Canonical Allele Identifier: CA446306370

Gene: FBN2

Linked Data

• ClinVar Variation Id: 519843
• ClinVar RCV Id: RCV002313324 ; RCV002531824
• dbSNP Id: rs1554119714
• MyVariant Identifiers: chr5:g.127640695G>T (hg19) ; chr5:g.128305003G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128305003G>T , CM000667.2:g.128305003G>T	GRCh38
NC_000005.9:g.127640695G>T , CM000667.1:g.127640695G>T	GRCh37
NC_000005.8:g.127668594G>T	NCBI36
NG_008750.1:g.238041C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.2538C>A
ENST00000703785.1:n.2457C>A
ENST00000262464.9:c.5754C>A MANE Select	ENSP00000262464.4:p.Ile1918=
ENST00000262464.8:c.5754C>A	ENSP00000262464.4:p.Ile1918=
ENST00000508053.5:c.5754C>A	ENSP00000424571.1:p.Ile1918=
ENST00000619499.4:c.5751C>A	ENSP00000482132.1:p.Ile1917=
NM_001999.3:c.5754C>A	NP_001990.2:p.Ile1918=
XM_017009228.2:c.5601C>A	XP_016864717.1:p.Ile1867=
NM_001999.4:c.5754C>A MANE Select	NP_001990.2:p.Ile1918=