Canonical Allele Identifier: CA1581295365

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128395083_128395085delinsCAG , CM000667.2:g.128395083_128395085delinsCAG	GRCh38
NC_000005.9:g.127730776_127730778delinsCAG , CM000667.1:g.127730776_127730778delinsCAG	GRCh37
NC_000005.8:g.127758675_127758677delinsCAG	NCBI36
NG_008750.1:g.147958_147960delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703787.1:n.938+37_938+39delinsCTG
ENST00000262464.9:c.1231+37_1231+39delinsCTG MANE Select	ENSP00000262464.4:n.1231+37_1231+39delinsCTG
ENST00000262464.8:c.1231+37_1231+39delinsCTG	ENSP00000262464.4:n.1231+37_1231+39delinsCTG
ENST00000508053.5:c.1231+37_1231+39delinsCTG	ENSP00000424571.1:n.1231+37_1231+39delinsCTG
ENST00000508989.5:c.1132+37_1132+39delinsCTG	ENSP00000425596.1:n.1132+37_1132+39delinsCTG
ENST00000619499.4:c.1228+37_1228+39delinsCTG	ENSP00000482132.1:n.1228+37_1228+39delinsCTG
NM_001999.3:c.1231+37_1231+39delinsCTG	NP_001990.2:n.1231+37_1231+39delinsCTG
XM_017009228.2:c.1079-1717_1079-1715delinsCTG	XP_016864717.1:n.1079-1717_1079-1715delinsCTG
NM_001999.4:c.1231+37_1231+39delinsCTG MANE Select	NP_001990.2:n.1231+37_1231+39delinsCTG