Canonical Allele Identifier: CA323303

Gene: FBN2

Linked Data

• ClinVar Variation Id: 213432
• ClinVar RCV Id: RCV000198778 ; RCV000796322
• dbSNP Id: rs863223615
• gnomAD v2: 5-127595208-T-A
• gnomAD v3: 5-128259516-T-A
• gnomAD v4: 5-128259516-T-A
• MyVariant Identifiers: chr5:g.127595208T>A (hg19) ; chr5:g.128259516T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128259516T>A , CM000667.2:g.128259516T>A	GRCh38
NC_000005.9:g.127595208T>A , CM000667.1:g.127595208T>A	GRCh37
NC_000005.8:g.127623107T>A	NCBI36
NG_008750.1:g.283528A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262464.9:c.8678A>T MANE Select	ENSP00000262464.4:p.Asp2893Val
ENST00000262464.8:c.8678A>T	ENSP00000262464.4:p.Asp2893Val
ENST00000508053.5:c.8678A>T	ENSP00000424571.1:p.Asp2893Val
ENST00000619499.4:c.8675A>T	ENSP00000482132.1:p.Asp2892Val
NM_001999.3:c.8678A>T	NP_001990.2:p.Asp2893Val
XM_017009228.2:c.8525A>T	XP_016864717.1:p.Asp2842Val
NM_001999.4:c.8678A>T MANE Select	NP_001990.2:p.Asp2893Val