Canonical Allele Identifier: CA360757859

Gene: FBN2

Linked Data

• ClinVar Variation Id: 1176811
• ClinVar RCV Id: RCV001532521
• dbSNP Id: rs2126896995
• MyVariant Identifiers: chr5:g.127670979C>G (hg19) ; chr5:g.128335287C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335287C>G , CM000667.2:g.128335287C>G	GRCh38
NC_000005.9:g.127670979C>G , CM000667.1:g.127670979C>G	GRCh37
NC_000005.8:g.127698878C>G	NCBI36
NG_008750.1:g.207757G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.640G>C
ENST00000703785.1:n.721G>C
ENST00000262464.9:c.3856G>C MANE Select	ENSP00000262464.4:p.Glu1286Gln
ENST00000262464.8:c.3856G>C	ENSP00000262464.4:p.Glu1286Gln
ENST00000507835.5:c.406G>C	ENSP00000426839.1:p.Glu136Gln
ENST00000508053.5:c.3856G>C	ENSP00000424571.1:p.Glu1286Gln
ENST00000508989.5:c.3757G>C	ENSP00000425596.1:p.Glu1253Gln
ENST00000619499.4:c.3853G>C	ENSP00000482132.1:p.Glu1285Gln
NM_001999.3:c.3856G>C	NP_001990.2:p.Glu1286Gln
XM_017009228.2:c.3703G>C	XP_016864717.1:p.Glu1235Gln
NM_001999.4:c.3856G>C MANE Select	NP_001990.2:p.Glu1286Gln