Canonical Allele Identifier: CA1581261071

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128317230_128317231delinsCT , CM000667.2:g.128317230_128317231delinsCT	GRCh38
NC_000005.9:g.127652922_127652923delinsCT , CM000667.1:g.127652922_127652923delinsCT	GRCh37
NC_000005.8:g.127680821_127680822delinsCT	NCBI36
NG_008750.1:g.225813_225814delinsAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.1501+918_1501+919delinsAG
ENST00000703785.1:n.1582+918_1582+919delinsAG
ENST00000262464.9:c.4717+918_4717+919delinsAG MANE Select	ENSP00000262464.4:n.4717+918_4717+919delinsAG
ENST00000262464.8:c.4717+918_4717+919delinsAG	ENSP00000262464.4:n.4717+918_4717+919delinsAG
ENST00000508053.5:c.4717+918_4717+919delinsAG	ENSP00000424571.1:n.4717+918_4717+919delinsAG
ENST00000619499.4:c.4714+918_4714+919delinsAG	ENSP00000482132.1:n.4714+918_4714+919delinsAG
NM_001999.3:c.4717+918_4717+919delinsAG	NP_001990.2:n.4717+918_4717+919delinsAG
XM_017009228.2:c.4564+918_4564+919delinsAG	XP_016864717.1:n.4564+918_4564+919delinsAG
NM_001999.4:c.4717+918_4717+919delinsAG MANE Select	NP_001990.2:n.4717+918_4717+919delinsAG