Canonical Allele Identifier: CA1581269536

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335333_128335336delinsTGTC , CM000667.2:g.128335333_128335336delinsTGTC	GRCh38
NC_000005.9:g.127671025_127671028delinsTGTC , CM000667.1:g.127671025_127671028delinsTGTC	GRCh37
NC_000005.8:g.127698924_127698927delinsTGTC	NCBI36
NG_008750.1:g.207708_207711delinsGACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.632-41_632-38delinsGACA
ENST00000703785.1:n.713-41_713-38delinsGACA
ENST00000262464.9:c.3848-41_3848-38delinsGACA MANE Select	ENSP00000262464.4:n.3848-41_3848-38delinsGACA
ENST00000262464.8:c.3848-41_3848-38delinsGACA	ENSP00000262464.4:n.3848-41_3848-38delinsGACA
ENST00000507835.5:c.398-41_398-38delinsGACA	ENSP00000426839.1:n.398-41_398-38delinsGACA
ENST00000508053.5:c.3848-41_3848-38delinsGACA	ENSP00000424571.1:n.3848-41_3848-38delinsGACA
ENST00000508989.5:c.3749-41_3749-38delinsGACA	ENSP00000425596.1:n.3749-41_3749-38delinsGACA
ENST00000619499.4:c.3845-41_3845-38delinsGACA	ENSP00000482132.1:n.3845-41_3845-38delinsGACA
NM_001999.3:c.3848-41_3848-38delinsGACA	NP_001990.2:n.3848-41_3848-38delinsGACA
XM_017009228.2:c.3695-41_3695-38delinsGACA	XP_016864717.1:n.3695-41_3695-38delinsGACA
NM_001999.4:c.3848-41_3848-38delinsGACA MANE Select	NP_001990.2:n.3848-41_3848-38delinsGACA