Canonical Allele Identifier: CA803633002

Gene: FBN2

Linked Data

• dbSNP Id: rs1270936850
• gnomAD v4: 5-128330444-C-A
• MyVariant Identifiers: chr5:g.127666136C>A (hg19) ; chr5:g.128330444C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128330444C>A , CM000667.2:g.128330444C>A	GRCh38
NC_000005.9:g.127666136C>A , CM000667.1:g.127666136C>A	GRCh37
NC_000005.8:g.127694035C>A	NCBI36
NG_008750.1:g.212600G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.1129+129G>T
ENST00000703785.1:n.1210+129G>T
ENST00000262464.9:c.4345+129G>T MANE Select	ENSP00000262464.4:n.4345+129G>T
ENST00000262464.8:c.4345+129G>T	ENSP00000262464.4:n.4345+129G>T
ENST00000507835.5:c.895+129G>T	ENSP00000426839.1:n.895+129G>T
ENST00000508053.5:c.4345+129G>T	ENSP00000424571.1:n.4345+129G>T
ENST00000508989.5:c.4246+129G>T	ENSP00000425596.1:n.4246+129G>T
ENST00000619499.4:c.4342+129G>T	ENSP00000482132.1:n.4342+129G>T
NM_001999.3:c.4345+129G>T	NP_001990.2:n.4345+129G>T
XM_017009228.2:c.4192+129G>T	XP_016864717.1:n.4192+129G>T
NM_001999.4:c.4345+129G>T MANE Select	NP_001990.2:n.4345+129G>T