Canonical Allele Identifier: CA3393803

Gene: FBN2

Linked Data

• ClinVar Variation Id: 528397
• ClinVar RCV Id: RCV000633580 ; RCV000765796 ; RCV002448951 ; RCV003117441
• dbSNP Id: rs757028268
• ExAC: 5:127595442 T / G
• gnomAD v2: 5-127595442-T-G
• gnomAD v3: 5-128259750-T-G
• gnomAD v4: 5-128259750-T-G
• MyVariant Identifiers: chr5:g.127595442T>G (hg19) ; chr5:g.128259750T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128259750T>G , CM000667.2:g.128259750T>G	GRCh38
NC_000005.9:g.127595442T>G , CM000667.1:g.127595442T>G	GRCh37
NC_000005.8:g.127623341T>G	NCBI36
NG_008750.1:g.283294A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262464.9:c.8444A>C MANE Select	ENSP00000262464.4:p.Lys2815Thr
ENST00000262464.8:c.8444A>C	ENSP00000262464.4:p.Lys2815Thr
ENST00000508053.5:c.8444A>C	ENSP00000424571.1:p.Lys2815Thr
ENST00000619499.4:c.8441A>C	ENSP00000482132.1:p.Lys2814Thr
NM_001999.3:c.8444A>C	NP_001990.2:p.Lys2815Thr
XM_017009228.2:c.8291A>C	XP_016864717.1:p.Lys2764Thr
NM_001999.4:c.8444A>C MANE Select	NP_001990.2:p.Lys2815Thr