Canonical Allele Identifier: CA3395500

Gene: FBN2

Linked Data

• dbSNP Id: rs148598779
• ExAC: 5:127693085 T / A
• gnomAD v2: 5-127693085-T-A
• gnomAD v4: 5-128357393-T-A
• MyVariant Identifiers: chr5:g.127693085T>A (hg19) ; chr5:g.128357393T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128357393T>A , CM000667.2:g.128357393T>A	GRCh38
NC_000005.9:g.127693085T>A , CM000667.1:g.127693085T>A	GRCh37
NC_000005.8:g.127720984T>A	NCBI36
NG_008750.1:g.185651A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262464.9:c.2557A>T MANE Select	ENSP00000262464.4:p.Ile853Leu
ENST00000262464.8:c.2557A>T	ENSP00000262464.4:p.Ile853Leu
ENST00000508053.5:c.2557A>T	ENSP00000424571.1:p.Ile853Leu
ENST00000508989.5:c.2458A>T	ENSP00000425596.1:p.Ile820Leu
ENST00000619499.4:c.2554A>T	ENSP00000482132.1:p.Ile852Leu
NM_001999.3:c.2557A>T	NP_001990.2:p.Ile853Leu
XM_017009228.2:c.2404A>T	XP_016864717.1:p.Ile802Leu
NM_001999.4:c.2557A>T MANE Select	NP_001990.2:p.Ile853Leu