Canonical Allele Identifier: CA1581261137

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128317362_128317364delinsAAC , CM000667.2:g.128317362_128317364delinsAAC	GRCh38
NC_000005.9:g.127653054_127653056delinsAAC , CM000667.1:g.127653054_127653056delinsAAC	GRCh37
NC_000005.8:g.127680953_127680955delinsAAC	NCBI36
NG_008750.1:g.225680_225682delinsGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.1501+785_1501+787delinsGTT
ENST00000703785.1:n.1582+785_1582+787delinsGTT
ENST00000262464.9:c.4717+785_4717+787delinsGTT MANE Select	ENSP00000262464.4:n.4717+785_4717+787delinsGTT
ENST00000262464.8:c.4717+785_4717+787delinsGTT	ENSP00000262464.4:n.4717+785_4717+787delinsGTT
ENST00000508053.5:c.4717+785_4717+787delinsGTT	ENSP00000424571.1:n.4717+785_4717+787delinsGTT
ENST00000619499.4:c.4714+785_4714+787delinsGTT	ENSP00000482132.1:n.4714+785_4714+787delinsGTT
NM_001999.3:c.4717+785_4717+787delinsGTT	NP_001990.2:n.4717+785_4717+787delinsGTT
XM_017009228.2:c.4564+785_4564+787delinsGTT	XP_016864717.1:n.4564+785_4564+787delinsGTT
NM_001999.4:c.4717+785_4717+787delinsGTT MANE Select	NP_001990.2:n.4717+785_4717+787delinsGTT