Canonical Allele Identifier: CA360753810

Gene: FBN2

Linked Data

• ClinVar Variation Id: 1524703
• ClinVar RCV Id: RCV002031915
• dbSNP Id: rs2126888942
• MyVariant Identifiers: chr5:g.127666270C>T (hg19) ; chr5:g.128330578C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128330578C>T , CM000667.2:g.128330578C>T	GRCh38
NC_000005.9:g.127666270C>T , CM000667.1:g.127666270C>T	GRCh37
NC_000005.8:g.127694169C>T	NCBI36
NG_008750.1:g.212466G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.1124G>A
ENST00000703785.1:n.1205G>A
ENST00000262464.9:c.4340G>A MANE Select	ENSP00000262464.4:p.Cys1447Tyr
ENST00000262464.8:c.4340G>A	ENSP00000262464.4:p.Cys1447Tyr
ENST00000507835.5:c.890G>A	ENSP00000426839.1:p.Cys297Tyr
ENST00000508053.5:c.4340G>A	ENSP00000424571.1:p.Cys1447Tyr
ENST00000508989.5:c.4241G>A	ENSP00000425596.1:p.Cys1414Tyr
ENST00000619499.4:c.4337G>A	ENSP00000482132.1:p.Cys1446Tyr
NM_001999.3:c.4340G>A	NP_001990.2:p.Cys1447Tyr
XM_017009228.2:c.4187G>A	XP_016864717.1:p.Cys1396Tyr
NM_001999.4:c.4340G>A MANE Select	NP_001990.2:p.Cys1447Tyr