Canonical Allele Identifier: CA446307076

Gene: FBN2

Linked Data

• ClinVar Variation Id: 519807
• ClinVar RCV Id: RCV002060670 ; RCV002313288
• dbSNP Id: rs1554117089
• gnomAD v3: 5-128278663-A-G
• gnomAD v4: 5-128278663-A-G
• MyVariant Identifiers: chr5:g.127614355A>G (hg19) ; chr5:g.128278663A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128278663A>G , CM000667.2:g.128278663A>G	GRCh38
NC_000005.9:g.127614355A>G , CM000667.1:g.127614355A>G	GRCh37
NC_000005.8:g.127642254A>G	NCBI36
NG_008750.1:g.264381T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.4101T>C
ENST00000262464.9:c.7317T>C MANE Select	ENSP00000262464.4:p.His2439=
ENST00000262464.8:c.7317T>C	ENSP00000262464.4:p.His2439=
ENST00000508053.5:c.7317T>C	ENSP00000424571.1:p.His2439=
ENST00000619499.4:c.7314T>C	ENSP00000482132.1:p.His2438=
NM_001999.3:c.7317T>C	NP_001990.2:p.His2439=
XM_017009228.2:c.7164T>C	XP_016864717.1:p.His2388=
NM_001999.4:c.7317T>C MANE Select	NP_001990.2:p.His2439=