Canonical Allele Identifier: CA290877

Gene: FBN2

Linked Data

• ClinVar Variation Id: 137334
• ClinVar RCV Id: RCV000125055 ; RCV000267299
• dbSNP Id: rs10044959
• ExAC: 5:127648500 A / G
• gnomAD v2: 5-127648500-A-G
• gnomAD v3: 5-128312808-A-G
• gnomAD v4: 5-128312808-A-G
• MyVariant Identifiers: chr5:g.127648500A>G (hg19) ; chr5:g.128312808A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128312808A>G , CM000667.2:g.128312808A>G	GRCh38
NC_000005.9:g.127648500A>G , CM000667.1:g.127648500A>G	GRCh37
NC_000005.8:g.127676399A>G	NCBI36
NG_008750.1:g.230236T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.1502-13T>C
ENST00000703785.1:n.1583-855T>C
ENST00000262464.9:c.4718-13T>C MANE Select	ENSP00000262464.4:n.4718-13T>C
ENST00000262464.8:c.4718-13T>C	ENSP00000262464.4:n.4718-13T>C
ENST00000508053.5:c.4718-13T>C	ENSP00000424571.1:n.4718-13T>C
ENST00000619499.4:c.4715-13T>C	ENSP00000482132.1:n.4715-13T>C
NM_001999.3:c.4718-13T>C	NP_001990.2:n.4718-13T>C
XM_017009228.2:c.4565-13T>C	XP_016864717.1:n.4565-13T>C
NM_001999.4:c.4718-13T>C MANE Select	NP_001990.2:n.4718-13T>C