Canonical Allele Identifier: CA325189

Gene: FBN2

Linked Data

• ClinVar Variation Id: 213252
• ClinVar RCV Id: RCV001573380 ; RCV002310774
• dbSNP Id: rs28763923
• ExAC: 5:127611731 T / C
• gnomAD v2: 5-127611731-T-C
• gnomAD v3: 5-128276039-T-C
• gnomAD v4: 5-128276039-T-C
• MyVariant Identifiers: chr5:g.127611731T>C (hg19) ; chr5:g.128276039T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128276039T>C , CM000667.2:g.128276039T>C	GRCh38
NC_000005.9:g.127611731T>C , CM000667.1:g.127611731T>C	GRCh37
NC_000005.8:g.127639630T>C	NCBI36
NG_008750.1:g.267005A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.4377A>G
ENST00000262464.9:c.7593A>G MANE Select	ENSP00000262464.4:p.Lys2531=
ENST00000262464.8:c.7593A>G	ENSP00000262464.4:p.Lys2531=
ENST00000508053.5:c.7593A>G	ENSP00000424571.1:p.Lys2531=
ENST00000619499.4:c.7590A>G	ENSP00000482132.1:p.Lys2530=
NM_001999.3:c.7593A>G	NP_001990.2:p.Lys2531=
XM_017009228.2:c.7440A>G	XP_016864717.1:p.Lys2480=
NM_001999.4:c.7593A>G MANE Select	NP_001990.2:p.Lys2531=