Canonical Allele Identifier: CA1581268454

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128333100_128333101delinsAT , CM000667.2:g.128333100_128333101delinsAT	GRCh38
NC_000005.9:g.127668792_127668793delinsAT , CM000667.1:g.127668792_127668793delinsAT	GRCh37
NC_000005.8:g.127696691_127696692delinsAT	NCBI36
NG_008750.1:g.209943_209944delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.884-67_884-66delinsAT
ENST00000703785.1:n.965-67_965-66delinsAT
ENST00000262464.9:c.4100-67_4100-66delinsAT MANE Select	ENSP00000262464.4:n.4100-67_4100-66delinsAT
ENST00000262464.8:c.4100-67_4100-66delinsAT	ENSP00000262464.4:n.4100-67_4100-66delinsAT
ENST00000507835.5:c.650-67_650-66delinsAT	ENSP00000426839.1:n.650-67_650-66delinsAT
ENST00000508053.5:c.4100-67_4100-66delinsAT	ENSP00000424571.1:n.4100-67_4100-66delinsAT
ENST00000508989.5:c.4001-67_4001-66delinsAT	ENSP00000425596.1:n.4001-67_4001-66delinsAT
ENST00000619499.4:c.4097-67_4097-66delinsAT	ENSP00000482132.1:n.4097-67_4097-66delinsAT
NM_001999.3:c.4100-67_4100-66delinsAT	NP_001990.2:n.4100-67_4100-66delinsAT
XM_017009228.2:c.3947-67_3947-66delinsAT	XP_016864717.1:n.3947-67_3947-66delinsAT
NM_001999.4:c.4100-67_4100-66delinsAT MANE Select	NP_001990.2:n.4100-67_4100-66delinsAT