Canonical Allele Identifier: CA1581269528

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335327_128335328delinsTA , CM000667.2:g.128335327_128335328delinsTA	GRCh38
NC_000005.9:g.127671019_127671020delinsTA , CM000667.1:g.127671019_127671020delinsTA	GRCh37
NC_000005.8:g.127698918_127698919delinsTA	NCBI36
NG_008750.1:g.207716_207717delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.632-33_632-32delinsTA
ENST00000703785.1:n.713-33_713-32delinsTA
ENST00000262464.9:c.3848-33_3848-32delinsTA MANE Select	ENSP00000262464.4:n.3848-33_3848-32delinsTA
ENST00000262464.8:c.3848-33_3848-32delinsTA	ENSP00000262464.4:n.3848-33_3848-32delinsTA
ENST00000507835.5:c.398-33_398-32delinsTA	ENSP00000426839.1:n.398-33_398-32delinsTA
ENST00000508053.5:c.3848-33_3848-32delinsTA	ENSP00000424571.1:n.3848-33_3848-32delinsTA
ENST00000508989.5:c.3749-33_3749-32delinsTA	ENSP00000425596.1:n.3749-33_3749-32delinsTA
ENST00000619499.4:c.3845-33_3845-32delinsTA	ENSP00000482132.1:n.3845-33_3845-32delinsTA
NM_001999.3:c.3848-33_3848-32delinsTA	NP_001990.2:n.3848-33_3848-32delinsTA
XM_017009228.2:c.3695-33_3695-32delinsTA	XP_016864717.1:n.3695-33_3695-32delinsTA
NM_001999.4:c.3848-33_3848-32delinsTA MANE Select	NP_001990.2:n.3848-33_3848-32delinsTA