Canonical Allele Identifier: CA321134

Gene: FBN2

Linked Data

• ClinVar Variation Id: 213403
• ClinVar RCV Id: RCV000505728
• dbSNP Id: rs863223604
• MyVariant Identifiers: chr5:g.127671146C>A (hg19) ; chr5:g.128335454C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335454C>A , CM000667.2:g.128335454C>A	GRCh38
NC_000005.9:g.127671146C>A , CM000667.1:g.127671146C>A	GRCh37
NC_000005.8:g.127699045C>A	NCBI36
NG_008750.1:g.207590G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.631+1G>T
ENST00000703785.1:n.712+1G>T
ENST00000262464.9:c.3847+1G>T MANE Select	ENSP00000262464.4:n.3847+1G>T
ENST00000262464.8:c.3847+1G>T	ENSP00000262464.4:n.3847+1G>T
ENST00000507835.5:c.397+1G>T	ENSP00000426839.1:n.397+1G>T
ENST00000508053.5:c.3847+1G>T	ENSP00000424571.1:n.3847+1G>T
ENST00000508989.5:c.3748+1G>T	ENSP00000425596.1:n.3748+1G>T
ENST00000619499.4:c.3844+1G>T	ENSP00000482132.1:n.3844+1G>T
NM_001999.3:c.3847+1G>T	NP_001990.2:n.3847+1G>T
XM_017009228.2:c.3694+1G>T	XP_016864717.1:n.3694+1G>T
NM_001999.4:c.3847+1G>T MANE Select	NP_001990.2:n.3847+1G>T