Canonical Allele Identifier: CA322319

Gene: FBN2

Linked Data

• ClinVar Variation Id: 213226
• ClinVar RCV Id: RCV000197856 ; RCV000727149 ; RCV001080372 ; RCV002315579
• dbSNP Id: rs147633551
• ExAC: 5:127681253 A / G
• gnomAD v2: 5-127681253-A-G
• gnomAD v3: 5-128345561-A-G
• gnomAD v4: 5-128345561-A-G
• MyVariant Identifiers: chr5:g.127681253A>G (hg19) ; chr5:g.128345561A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128345561A>G , CM000667.2:g.128345561A>G	GRCh38
NC_000005.9:g.127681253A>G , CM000667.1:g.127681253A>G	GRCh37
NC_000005.8:g.127709152A>G	NCBI36
NG_008750.1:g.197483T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262464.9:c.3013T>C MANE Select	ENSP00000262464.4:p.Leu1005=
ENST00000262464.8:c.3013T>C	ENSP00000262464.4:p.Leu1005=
ENST00000508053.5:c.3013T>C	ENSP00000424571.1:p.Leu1005=
ENST00000508989.5:c.2914T>C	ENSP00000425596.1:p.Leu972=
ENST00000619499.4:c.3010T>C	ENSP00000482132.1:p.Leu1004=
NM_001999.3:c.3013T>C	NP_001990.2:p.Leu1005=
XM_017009228.2:c.2860T>C	XP_016864717.1:p.Leu954=
NM_001999.4:c.3013T>C MANE Select	NP_001990.2:p.Leu1005=