Canonical Allele Identifier: CA1581268524

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128333253_128333263delinsAGCCACTTTCC , CM000667.2:g.128333253_128333263delinsAGCCACTTTCC	GRCh38
NC_000005.9:g.127668945_127668955delinsAGCCACTTTCC , CM000667.1:g.127668945_127668955delinsAGCCACTTTCC	GRCh37
NC_000005.8:g.127696844_127696854delinsAGCCACTTTCC	NCBI36
NG_008750.1:g.209781_209791delinsGGAAAGTGGCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.884-229_884-219delinsGGAAAGTGGCT
ENST00000703785.1:n.965-229_965-219delinsGGAAAGTGGCT
ENST00000262464.9:c.4100-229_4100-219delinsGGAAAGTGGCT MANE Select	ENSP00000262464.4:n.4100-229_4100-219delinsGGAAAGTGGCT
ENST00000262464.8:c.4100-229_4100-219delinsGGAAAGTGGCT	ENSP00000262464.4:n.4100-229_4100-219delinsGGAAAGTGGCT
ENST00000507835.5:c.650-229_650-219delinsGGAAAGTGGCT	ENSP00000426839.1:n.650-229_650-219delinsGGAAAGTGGCT
ENST00000508053.5:c.4100-229_4100-219delinsGGAAAGTGGCT	ENSP00000424571.1:n.4100-229_4100-219delinsGGAAAGTGGCT
ENST00000508989.5:c.4001-229_4001-219delinsGGAAAGTGGCT	ENSP00000425596.1:n.4001-229_4001-219delinsGGAAAGTGGCT
ENST00000619499.4:c.4097-229_4097-219delinsGGAAAGTGGCT	ENSP00000482132.1:n.4097-229_4097-219delinsGGAAAGTGGCT
NM_001999.3:c.4100-229_4100-219delinsGGAAAGTGGCT	NP_001990.2:n.4100-229_4100-219delinsGGAAAGTGGCT
XM_017009228.2:c.3947-229_3947-219delinsGGAAAGTGGCT	XP_016864717.1:n.3947-229_3947-219delinsGGAAAGTGGCT
NM_001999.4:c.4100-229_4100-219delinsGGAAAGTGGCT MANE Select	NP_001990.2:n.4100-229_4100-219delinsGGAAAGTGGCT