Canonical Allele Identifier: CA1581269573

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335404_128335405delinsCA , CM000667.2:g.128335404_128335405delinsCA	GRCh38
NC_000005.9:g.127671096_127671097delinsCA , CM000667.1:g.127671096_127671097delinsCA	GRCh37
NC_000005.8:g.127698995_127698996delinsCA	NCBI36
NG_008750.1:g.207639_207640delinsTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.631+50_631+51delinsTG
ENST00000703785.1:n.712+50_712+51delinsTG
ENST00000262464.9:c.3847+50_3847+51delinsTG MANE Select	ENSP00000262464.4:n.3847+50_3847+51delinsTG
ENST00000262464.8:c.3847+50_3847+51delinsTG	ENSP00000262464.4:n.3847+50_3847+51delinsTG
ENST00000507835.5:c.397+50_397+51delinsTG	ENSP00000426839.1:n.397+50_397+51delinsTG
ENST00000508053.5:c.3847+50_3847+51delinsTG	ENSP00000424571.1:n.3847+50_3847+51delinsTG
ENST00000508989.5:c.3748+50_3748+51delinsTG	ENSP00000425596.1:n.3748+50_3748+51delinsTG
ENST00000619499.4:c.3844+50_3844+51delinsTG	ENSP00000482132.1:n.3844+50_3844+51delinsTG
NM_001999.3:c.3847+50_3847+51delinsTG	NP_001990.2:n.3847+50_3847+51delinsTG
XM_017009228.2:c.3694+50_3694+51delinsTG	XP_016864717.1:n.3694+50_3694+51delinsTG
NM_001999.4:c.3847+50_3847+51delinsTG MANE Select	NP_001990.2:n.3847+50_3847+51delinsTG