Canonical Allele Identifier: CA1581253542

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128301016_128301017delinsTA , CM000667.2:g.128301016_128301017delinsTA	GRCh38
NC_000005.9:g.127636708_127636709delinsTA , CM000667.1:g.127636708_127636709delinsTA	GRCh37
NC_000005.8:g.127664607_127664608delinsTA	NCBI36
NG_008750.1:g.242027_242028delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.2831-81_2831-80delinsTA
ENST00000703785.1:n.2750-81_2750-80delinsTA
ENST00000262464.9:c.6047-81_6047-80delinsTA MANE Select	ENSP00000262464.4:n.6047-81_6047-80delinsTA
ENST00000262464.8:c.6047-81_6047-80delinsTA	ENSP00000262464.4:n.6047-81_6047-80delinsTA
ENST00000508053.5:c.6047-81_6047-80delinsTA	ENSP00000424571.1:n.6047-81_6047-80delinsTA
ENST00000619499.4:c.6044-81_6044-80delinsTA	ENSP00000482132.1:n.6044-81_6044-80delinsTA
NM_001999.3:c.6047-81_6047-80delinsTA	NP_001990.2:n.6047-81_6047-80delinsTA
XM_017009228.2:c.5894-81_5894-80delinsTA	XP_016864717.1:n.5894-81_5894-80delinsTA
NM_001999.4:c.6047-81_6047-80delinsTA MANE Select	NP_001990.2:n.6047-81_6047-80delinsTA