Canonical Allele Identifier: CA324330

Gene: FBN2

Linked Data

• ClinVar Variation Id: 213300
• ClinVar RCV Id: RCV000199772 ; RCV002277523 ; RCV003640871
• dbSNP Id: rs150506063
• ExAC: 5:127681117 G / A
• gnomAD v2: 5-127681117-G-A
• gnomAD v3: 5-128345425-G-A
• gnomAD v4: 5-128345425-G-A
• COSMIC: COSM50535 ; COSM3849864
• MyVariant Identifiers: chr5:g.127681117G>A (hg19) ; chr5:g.128345425G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128345425G>A , CM000667.2:g.128345425G>A	GRCh38
NC_000005.9:g.127681117G>A , CM000667.1:g.127681117G>A	GRCh37
NC_000005.8:g.127709016G>A	NCBI36
NG_008750.1:g.197619C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262464.9:c.3149C>T MANE Select	ENSP00000262464.4:p.Thr1050Met
ENST00000262464.8:c.3149C>T	ENSP00000262464.4:p.Thr1050Met
ENST00000508053.5:c.3149C>T	ENSP00000424571.1:p.Thr1050Met
ENST00000508989.5:c.3050C>T	ENSP00000425596.1:p.Thr1017Met
ENST00000619499.4:c.3146C>T	ENSP00000482132.1:p.Thr1049Met
NM_001999.3:c.3149C>T	NP_001990.2:p.Thr1050Met
XM_017009228.2:c.2996C>T	XP_016864717.1:p.Thr999Met
NM_001999.4:c.3149C>T MANE Select	NP_001990.2:p.Thr1050Met