Canonical Allele Identifier: CA3394604

Gene: FBN2

Linked Data

• dbSNP Id: rs780229106
• ExAC: 5:127640697 T / A
• gnomAD v2: 5-127640697-T-A
• gnomAD v4: 5-128305005-T-A
• MyVariant Identifiers: chr5:g.127640697T>A (hg19) ; chr5:g.128305005T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128305005T>A , CM000667.2:g.128305005T>A	GRCh38
NC_000005.9:g.127640697T>A , CM000667.1:g.127640697T>A	GRCh37
NC_000005.8:g.127668596T>A	NCBI36
NG_008750.1:g.238039A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.2536A>T
ENST00000703785.1:n.2455A>T
ENST00000262464.9:c.5752A>T MANE Select	ENSP00000262464.4:p.Ile1918Phe
ENST00000262464.8:c.5752A>T	ENSP00000262464.4:p.Ile1918Phe
ENST00000508053.5:c.5752A>T	ENSP00000424571.1:p.Ile1918Phe
ENST00000619499.4:c.5749A>T	ENSP00000482132.1:p.Ile1917Phe
NM_001999.3:c.5752A>T	NP_001990.2:p.Ile1918Phe
XM_017009228.2:c.5599A>T	XP_016864717.1:p.Ile1867Phe
NM_001999.4:c.5752A>T MANE Select	NP_001990.2:p.Ile1918Phe