Canonical Allele Identifier: CA360753978

Gene: FBN2

Linked Data

• ClinVar Variation Id: 945271
• ClinVar RCV Id: RCV001215872
• dbSNP Id: rs1750667332
• MyVariant Identifiers: chr5:g.127666309C>G (hg19) ; chr5:g.128330617C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128330617C>G , CM000667.2:g.128330617C>G	GRCh38
NC_000005.9:g.127666309C>G , CM000667.1:g.127666309C>G	GRCh37
NC_000005.8:g.127694208C>G	NCBI36
NG_008750.1:g.212427G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.1085G>C
ENST00000703785.1:n.1166G>C
ENST00000262464.9:c.4301G>C MANE Select	ENSP00000262464.4:p.Cys1434Ser
ENST00000262464.8:c.4301G>C	ENSP00000262464.4:p.Cys1434Ser
ENST00000507835.5:c.851G>C	ENSP00000426839.1:p.Cys284Ser
ENST00000508053.5:c.4301G>C	ENSP00000424571.1:p.Cys1434Ser
ENST00000508989.5:c.4202G>C	ENSP00000425596.1:p.Cys1401Ser
ENST00000619499.4:c.4298G>C	ENSP00000482132.1:p.Cys1433Ser
NM_001999.3:c.4301G>C	NP_001990.2:p.Cys1434Ser
XM_017009228.2:c.4148G>C	XP_016864717.1:p.Cys1383Ser
NM_001999.4:c.4301G>C MANE Select	NP_001990.2:p.Cys1434Ser