Canonical Allele Identifier: CA360766167

Gene: FBN2

Linked Data

• ClinVar Variation Id: 2762870
• ClinVar RCV Id: RCV003526419
• MyVariant Identifiers: chr5:g.127636515A>T (hg19) ; chr5:g.128300823A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128300823A>T , CM000667.2:g.128300823A>T	GRCh38
NC_000005.9:g.127636515A>T , CM000667.1:g.127636515A>T	GRCh37
NC_000005.8:g.127664414A>T	NCBI36
NG_008750.1:g.242221T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.2944T>A
ENST00000703785.1:n.2863T>A
ENST00000262464.9:c.6160T>A MANE Select	ENSP00000262464.4:p.Cys2054Ser
ENST00000262464.8:c.6160T>A	ENSP00000262464.4:p.Cys2054Ser
ENST00000508053.5:c.6160T>A	ENSP00000424571.1:p.Cys2054Ser
ENST00000619499.4:c.6157T>A	ENSP00000482132.1:p.Cys2053Ser
NM_001999.3:c.6160T>A	NP_001990.2:p.Cys2054Ser
XM_017009228.2:c.6007T>A	XP_016864717.1:p.Cys2003Ser
NM_001999.4:c.6160T>A MANE Select	NP_001990.2:p.Cys2054Ser