Canonical Allele Identifier: CA320225

Gene: FBN2

Linked Data

• ClinVar Variation Id: 213357
• ClinVar RCV Id: RCV000195847 ; RCV001853147
• dbSNP Id: rs201883128
• ExAC: 5:127614341 G / A
• gnomAD v2: 5-127614341-G-A
• gnomAD v3: 5-128278649-G-A
• gnomAD v4: 5-128278649-G-A
• MyVariant Identifiers: chr5:g.127614341G>A (hg19) ; chr5:g.128278649G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128278649G>A , CM000667.2:g.128278649G>A	GRCh38
NC_000005.9:g.127614341G>A , CM000667.1:g.127614341G>A	GRCh37
NC_000005.8:g.127642240G>A	NCBI36
NG_008750.1:g.264395C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.4115C>T
ENST00000262464.9:c.7331C>T MANE Select	ENSP00000262464.4:p.Thr2444Ile
ENST00000262464.8:c.7331C>T	ENSP00000262464.4:p.Thr2444Ile
ENST00000508053.5:c.7331C>T	ENSP00000424571.1:p.Thr2444Ile
ENST00000619499.4:c.7328C>T	ENSP00000482132.1:p.Thr2443Ile
NM_001999.3:c.7331C>T	NP_001990.2:p.Thr2444Ile
XM_017009228.2:c.7178C>T	XP_016864717.1:p.Thr2393Ile
NM_001999.4:c.7331C>T MANE Select	NP_001990.2:p.Thr2444Ile