Canonical Allele Identifier: CA1581268333

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128332807_128332808delinsTA , CM000667.2:g.128332807_128332808delinsTA	GRCh38
NC_000005.9:g.127668499_127668500delinsTA , CM000667.1:g.127668499_127668500delinsTA	GRCh37
NC_000005.8:g.127696398_127696399delinsTA	NCBI36
NG_008750.1:g.210236_210237delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.1006+104_1006+105delinsTA
ENST00000703785.1:n.1087+104_1087+105delinsTA
ENST00000262464.9:c.4222+104_4222+105delinsTA MANE Select	ENSP00000262464.4:n.4222+104_4222+105delinsTA
ENST00000262464.8:c.4222+104_4222+105delinsTA	ENSP00000262464.4:n.4222+104_4222+105delinsTA
ENST00000507835.5:c.772+104_772+105delinsTA	ENSP00000426839.1:n.772+104_772+105delinsTA
ENST00000508053.5:c.4222+104_4222+105delinsTA	ENSP00000424571.1:n.4222+104_4222+105delinsTA
ENST00000508989.5:c.4123+104_4123+105delinsTA	ENSP00000425596.1:n.4123+104_4123+105delinsTA
ENST00000619499.4:c.4219+104_4219+105delinsTA	ENSP00000482132.1:n.4219+104_4219+105delinsTA
NM_001999.3:c.4222+104_4222+105delinsTA	NP_001990.2:n.4222+104_4222+105delinsTA
XM_017009228.2:c.4069+104_4069+105delinsTA	XP_016864717.1:n.4069+104_4069+105delinsTA
NM_001999.4:c.4222+104_4222+105delinsTA MANE Select	NP_001990.2:n.4222+104_4222+105delinsTA