Canonical Allele Identifier: CA360761683

Gene: FBN2

Linked Data

• ClinVar Variation Id: 1024812
• ClinVar RCV Id: RCV001325039
• dbSNP Id: rs1751112929
• MyVariant Identifiers: chr5:g.127680089T>C (hg19) ; chr5:g.128344397T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128344397T>C , CM000667.2:g.128344397T>C	GRCh38
NC_000005.9:g.127680089T>C , CM000667.1:g.127680089T>C	GRCh37
NC_000005.8:g.127707988T>C	NCBI36
NG_008750.1:g.198647A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000262464.9:c.3331A>G MANE Select	ENSP00000262464.4:p.Arg1111Gly
ENST00000262464.8:c.3331A>G	ENSP00000262464.4:p.Arg1111Gly
ENST00000508053.5:c.3331A>G	ENSP00000424571.1:p.Arg1111Gly
ENST00000508989.5:c.3232A>G	ENSP00000425596.1:p.Arg1078Gly
ENST00000619499.4:c.3328A>G	ENSP00000482132.1:p.Arg1110Gly
NM_001999.3:c.3331A>G	NP_001990.2:p.Arg1111Gly
XM_017009228.2:c.3178A>G	XP_016864717.1:p.Arg1060Gly
NM_001999.4:c.3331A>G MANE Select	NP_001990.2:p.Arg1111Gly