Canonical Allele Identifier: CA244152

Gene: FBN2

Linked Data

• ClinVar Variation Id: 196780
• ClinVar RCV Id: RCV000177645 ; RCV000659618
• dbSNP Id: rs794727560
• MyVariant Identifiers: chr5:g.127668675C>T (hg19) ; chr5:g.128332983C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128332983C>T , CM000667.2:g.128332983C>T	GRCh38
NC_000005.9:g.127668675C>T , CM000667.1:g.127668675C>T	GRCh37
NC_000005.8:g.127696574C>T	NCBI36
NG_008750.1:g.210061G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.935G>A
ENST00000703785.1:n.1016G>A
ENST00000262464.9:c.4151G>A MANE Select	ENSP00000262464.4:p.Cys1384Tyr
ENST00000262464.8:c.4151G>A	ENSP00000262464.4:p.Cys1384Tyr
ENST00000507835.5:c.701G>A	ENSP00000426839.1:p.Cys234Tyr
ENST00000508053.5:c.4151G>A	ENSP00000424571.1:p.Cys1384Tyr
ENST00000508989.5:c.4052G>A	ENSP00000425596.1:p.Cys1351Tyr
ENST00000619499.4:c.4148G>A	ENSP00000482132.1:p.Cys1383Tyr
NM_001999.3:c.4151G>A	NP_001990.2:p.Cys1384Tyr
XM_017009228.2:c.3998G>A	XP_016864717.1:p.Cys1333Tyr
NM_001999.4:c.4151G>A MANE Select	NP_001990.2:p.Cys1384Tyr