Canonical Allele Identifier: CA3394257

Gene: FBN2

Linked Data

• ClinVar Variation Id: 289728
• ClinVar RCV Id: RCV000290426 ; RCV000696153 ; RCV000659629 ; RCV001199020 ; RCV002374485
• dbSNP Id: rs199910288
• ExAC: 5:127622440 C / A
• gnomAD v2: 5-127622440-C-A
• gnomAD v3: 5-128286748-C-A
• gnomAD v4: 5-128286748-C-A
• MyVariant Identifiers: chr5:g.127622440C>A (hg19) ; chr5:g.128286748C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128286748C>A , CM000667.2:g.128286748C>A	GRCh38
NC_000005.9:g.127622440C>A , CM000667.1:g.127622440C>A	GRCh37
NC_000005.8:g.127650339C>A	NCBI36
NG_008750.1:g.256296G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.3766G>T
ENST00000262464.9:c.6982G>T MANE Select	ENSP00000262464.4:p.Ala2328Ser
ENST00000262464.8:c.6982G>T	ENSP00000262464.4:p.Ala2328Ser
ENST00000508053.5:c.6982G>T	ENSP00000424571.1:p.Ala2328Ser
ENST00000619499.4:c.6979G>T	ENSP00000482132.1:p.Ala2327Ser
NM_001999.3:c.6982G>T	NP_001990.2:p.Ala2328Ser
XM_017009228.2:c.6829G>T	XP_016864717.1:p.Ala2277Ser
NM_001999.4:c.6982G>T MANE Select	NP_001990.2:p.Ala2328Ser