Canonical Allele Identifier: CA1581261072

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128317231_128317235delinsTTTTA , CM000667.2:g.128317231_128317235delinsTTTTA	GRCh38
NC_000005.9:g.127652923_127652927delinsTTTTA , CM000667.1:g.127652923_127652927delinsTTTTA	GRCh37
NC_000005.8:g.127680822_127680826delinsTTTTA	NCBI36
NG_008750.1:g.225809_225813delinsTAAAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.1501+914_1501+918delinsTAAAA
ENST00000703785.1:n.1582+914_1582+918delinsTAAAA
ENST00000262464.9:c.4717+914_4717+918delinsTAAAA MANE Select	ENSP00000262464.4:n.4717+914_4717+918delinsTAAAA
ENST00000262464.8:c.4717+914_4717+918delinsTAAAA	ENSP00000262464.4:n.4717+914_4717+918delinsTAAAA
ENST00000508053.5:c.4717+914_4717+918delinsTAAAA	ENSP00000424571.1:n.4717+914_4717+918delinsTAAAA
ENST00000619499.4:c.4714+914_4714+918delinsTAAAA	ENSP00000482132.1:n.4714+914_4714+918delinsTAAAA
NM_001999.3:c.4717+914_4717+918delinsTAAAA	NP_001990.2:n.4717+914_4717+918delinsTAAAA
XM_017009228.2:c.4564+914_4564+918delinsTAAAA	XP_016864717.1:n.4564+914_4564+918delinsTAAAA
NM_001999.4:c.4717+914_4717+918delinsTAAAA MANE Select	NP_001990.2:n.4717+914_4717+918delinsTAAAA