Canonical Allele Identifier: CA2768336270

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128357372_128357373insCAGTTCTAACAGAATCTTTTCCTTCTGGATTGTAGATATAAAT , CM000667.2:g.128357372_128357373insCAGTTCTAACAGAATCTTTTCCTTCTGGATTGTAGATATAAAT	GRCh38
NC_000005.9:g.127693064_127693065insCAGTTCTAACAGAATCTTTTCCTTCTGGATTGTAGATATAAAT , CM000667.1:g.127693064_127693065insCAGTTCTAACAGAATCTTTTCCTTCTGGATTGTAGATATAAAT	GRCh37
NC_000005.8:g.127720963_127720964insCAGTTCTAACAGAATCTTTTCCTTCTGGATTGTAGATATAAAT	NCBI36
NG_008750.1:g.185671_185672insATTTATATCTACAATCCAGAAGGAAAAGATTCTGTTAGAACTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262464.9:c.2577_2578insATTTATATCTACAATCCAGAAGGAAAAGATTCTGTTAGAACTG MANE Select	ENSP00000262464.4:p.Pro860IlefsTer31
ENST00000262464.8:c.2577_2578insATTTATATCTACAATCCAGAAGGAAAAGATTCTGTTAGAACTG	ENSP00000262464.4:p.Pro860IlefsTer31
ENST00000508053.5:c.2577_2578insATTTATATCTACAATCCAGAAGGAAAAGATTCTGTTAGAACTG	ENSP00000424571.1:p.Pro860IlefsTer31
ENST00000508989.5:c.2478_2479insATTTATATCTACAATCCAGAAGGAAAAGATTCTGTTAGAACTG	ENSP00000425596.1:p.Pro827IlefsTer31
ENST00000619499.4:c.2574_2575insATTTATATCTACAATCCAGAAGGAAAAGATTCTGTTAGAACTG	ENSP00000482132.1:p.Pro859IlefsTer31
NM_001999.3:c.2577_2578insATTTATATCTACAATCCAGAAGGAAAAGATTCTGTTAGAACTG	NP_001990.2:p.Pro860IlefsTer31
XM_017009228.2:c.2424_2425insATTTATATCTACAATCCAGAAGGAAAAGATTCTGTTAGAACTG	XP_016864717.1:p.Pro809IlefsTer31
NM_001999.4:c.2577_2578insATTTATATCTACAATCCAGAAGGAAAAGATTCTGTTAGAACTG MANE Select	NP_001990.2:p.Pro860IlefsTer31