Canonical Allele Identifier: CA3395498

Gene: FBN2

Linked Data

• ClinVar Variation Id: 264426
• ClinVar RCV Id: RCV000765800 ; RCV002311174 ; RCV002518725
• dbSNP Id: rs148598779
• ExAC: 5:127693085 T / G
• gnomAD v2: 5-127693085-T-G
• gnomAD v3: 5-128357393-T-G
• gnomAD v4: 5-128357393-T-G
• MyVariant Identifiers: chr5:g.127693085T>G (hg19) ; chr5:g.128357393T>G (hg38)

Genomic Alleles

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

Transcript Alleles

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