Canonical Allele Identifier: CA360755347

Gene: FBN2

Linked Data

• ClinVar Variation Id: 1304134
• ClinVar RCV Id: RCV001751901
• dbSNP Id: rs2126892178
• MyVariant Identifiers: chr5:g.127668705C>A (hg19) ; chr5:g.128333013C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128333013C>A , CM000667.2:g.128333013C>A	GRCh38
NC_000005.9:g.127668705C>A , CM000667.1:g.127668705C>A	GRCh37
NC_000005.8:g.127696604C>A	NCBI36
NG_008750.1:g.210031G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.905G>T
ENST00000703785.1:n.986G>T
ENST00000262464.9:c.4121G>T MANE Select	ENSP00000262464.4:p.Gly1374Val
ENST00000262464.8:c.4121G>T	ENSP00000262464.4:p.Gly1374Val
ENST00000507835.5:c.671G>T	ENSP00000426839.1:p.Gly224Val
ENST00000508053.5:c.4121G>T	ENSP00000424571.1:p.Gly1374Val
ENST00000508989.5:c.4022G>T	ENSP00000425596.1:p.Gly1341Val
ENST00000619499.4:c.4118G>T	ENSP00000482132.1:p.Gly1373Val
NM_001999.3:c.4121G>T	NP_001990.2:p.Gly1374Val
XM_017009228.2:c.3968G>T	XP_016864717.1:p.Gly1323Val
NM_001999.4:c.4121G>T MANE Select	NP_001990.2:p.Gly1374Val