Canonical Allele Identifier: CA1581268349

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128332859_128332860delinsGA , CM000667.2:g.128332859_128332860delinsGA	GRCh38
NC_000005.9:g.127668551_127668552delinsGA , CM000667.1:g.127668551_127668552delinsGA	GRCh37
NC_000005.8:g.127696450_127696451delinsGA	NCBI36
NG_008750.1:g.210184_210185delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.1006+52_1006+53delinsTC
ENST00000703785.1:n.1087+52_1087+53delinsTC
ENST00000262464.9:c.4222+52_4222+53delinsTC MANE Select	ENSP00000262464.4:n.4222+52_4222+53delinsTC
ENST00000262464.8:c.4222+52_4222+53delinsTC	ENSP00000262464.4:n.4222+52_4222+53delinsTC
ENST00000507835.5:c.772+52_772+53delinsTC	ENSP00000426839.1:n.772+52_772+53delinsTC
ENST00000508053.5:c.4222+52_4222+53delinsTC	ENSP00000424571.1:n.4222+52_4222+53delinsTC
ENST00000508989.5:c.4123+52_4123+53delinsTC	ENSP00000425596.1:n.4123+52_4123+53delinsTC
ENST00000619499.4:c.4219+52_4219+53delinsTC	ENSP00000482132.1:n.4219+52_4219+53delinsTC
NM_001999.3:c.4222+52_4222+53delinsTC	NP_001990.2:n.4222+52_4222+53delinsTC
XM_017009228.2:c.4069+52_4069+53delinsTC	XP_016864717.1:n.4069+52_4069+53delinsTC
NM_001999.4:c.4222+52_4222+53delinsTC MANE Select	NP_001990.2:n.4222+52_4222+53delinsTC