Canonical Allele Identifier: CA3396255

Gene: FBN2

Linked Data

• ClinVar Variation Id: 258506
• ClinVar RCV Id: RCV000249082
• dbSNP Id: rs372089451
• ExAC: 5:127873313 G / C
• gnomAD v2: 5-127873313-G-C
• gnomAD v3: 5-128537620-G-C
• gnomAD v4: 5-128537620-G-C
• MyVariant Identifiers: chr5:g.127873313G>C (hg19) ; chr5:g.128537620G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128537620G>C , CM000667.2:g.128537620G>C	GRCh38
NC_000005.9:g.127873313G>C , CM000667.1:g.127873313G>C	GRCh37
NC_000005.8:g.127901212G>C	NCBI36
NG_008750.1:g.5423C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000508053.6:c.-17C>G	ENSP00000424571.2:n.-17C>G
ENST00000262464.9:c.-17C>G MANE Select	ENSP00000262464.4:n.-17C>G
ENST00000262464.8:c.-17C>G	ENSP00000262464.4:n.-17C>G
ENST00000502468.5:c.-17C>G	ENSP00000424753.1:n.-17C>G
ENST00000508053.5:c.-17C>G	ENSP00000424571.1:n.-17C>G
ENST00000508989.5:c.-17C>G	ENSP00000425596.1:n.-17C>G
ENST00000514742.1:n.604C>G
ENST00000620257.1:c.-17C>G	ENSP00000479157.1:n.-17C>G
NM_001999.3:c.-17C>G	NP_001990.2:n.-17C>G
XM_017009228.2:c.-17C>G	XP_016864717.1:n.-17C>G
NM_001999.4:c.-17C>G MANE Select	NP_001990.2:n.-17C>G