Canonical Allele Identifier: CA360756957

Gene: FBN2

Linked Data

• ClinVar Variation Id: 528417
• ClinVar RCV Id: RCV000633606
• dbSNP Id: rs1479056828
• MyVariant Identifiers: chr5:g.127670454A>C (hg19) ; chr5:g.128334762A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128334762A>C , CM000667.2:g.128334762A>C	GRCh38
NC_000005.9:g.127670454A>C , CM000667.1:g.127670454A>C	GRCh37
NC_000005.8:g.127698353A>C	NCBI36
NG_008750.1:g.208282T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.840T>G
ENST00000703785.1:n.921T>G
ENST00000262464.9:c.4056T>G MANE Select	ENSP00000262464.4:p.Cys1352Trp
ENST00000262464.8:c.4056T>G	ENSP00000262464.4:p.Cys1352Trp
ENST00000507835.5:c.606T>G	ENSP00000426839.1:p.Cys202Trp
ENST00000508053.5:c.4056T>G	ENSP00000424571.1:p.Cys1352Trp
ENST00000508989.5:c.3957T>G	ENSP00000425596.1:p.Cys1319Trp
ENST00000619499.4:c.4053T>G	ENSP00000482132.1:p.Cys1351Trp
NM_001999.3:c.4056T>G	NP_001990.2:p.Cys1352Trp
XM_017009228.2:c.3903T>G	XP_016864717.1:p.Cys1301Trp
NM_001999.4:c.4056T>G MANE Select	NP_001990.2:p.Cys1352Trp