Canonical Allele Identifier: CA321576

Gene: FBN2

Linked Data

• ClinVar Variation Id: 213350
• ClinVar RCV Id: RCV000197133 ; RCV002310789 ; RCV002515359 ; RCV003230446
• dbSNP Id: rs145681607
• ExAC: 5:127624206 T / C
• gnomAD v2: 5-127624206-T-C
• gnomAD v3: 5-128288514-T-C
• gnomAD v4: 5-128288514-T-C
• MyVariant Identifiers: chr5:g.127624206T>C (hg19) ; chr5:g.128288514T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128288514T>C , CM000667.2:g.128288514T>C	GRCh38
NC_000005.9:g.127624206T>C , CM000667.1:g.127624206T>C	GRCh37
NC_000005.8:g.127652105T>C	NCBI36
NG_008750.1:g.254530A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.3465A>G
ENST00000703785.1:n.3384A>G
ENST00000262464.9:c.6681A>G MANE Select	ENSP00000262464.4:p.Thr2227=
ENST00000262464.8:c.6681A>G	ENSP00000262464.4:p.Thr2227=
ENST00000508053.5:c.6681A>G	ENSP00000424571.1:p.Thr2227=
ENST00000619499.4:c.6678A>G	ENSP00000482132.1:p.Thr2226=
NM_001999.3:c.6681A>G	NP_001990.2:p.Thr2227=
XM_017009228.2:c.6528A>G	XP_016864717.1:p.Thr2176=
NM_001999.4:c.6681A>G MANE Select	NP_001990.2:p.Thr2227=