Canonical Allele Identifier: CA360758065

Gene: FBN2

Linked Data

• ClinVar Variation Id: 859756
• ClinVar RCV Id: RCV001065940
• dbSNP Id: rs1750812513
• MyVariant Identifiers: chr5:g.127671225A>C (hg19) ; chr5:g.128335533A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335533A>C , CM000667.2:g.128335533A>C	GRCh38
NC_000005.9:g.127671225A>C , CM000667.1:g.127671225A>C	GRCh37
NC_000005.8:g.127699124A>C	NCBI36
NG_008750.1:g.207511T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.553T>G
ENST00000703785.1:n.634T>G
ENST00000262464.9:c.3769T>G MANE Select	ENSP00000262464.4:p.Cys1257Gly
ENST00000262464.8:c.3769T>G	ENSP00000262464.4:p.Cys1257Gly
ENST00000507835.5:c.319T>G	ENSP00000426839.1:p.Cys107Gly
ENST00000508053.5:c.3769T>G	ENSP00000424571.1:p.Cys1257Gly
ENST00000508989.5:c.3670T>G	ENSP00000425596.1:p.Cys1224Gly
ENST00000619499.4:c.3766T>G	ENSP00000482132.1:p.Cys1256Gly
NM_001999.3:c.3769T>G	NP_001990.2:p.Cys1257Gly
XM_017009228.2:c.3616T>G	XP_016864717.1:p.Cys1206Gly
NM_001999.4:c.3769T>G MANE Select	NP_001990.2:p.Cys1257Gly