Canonical Allele Identifier: CA1581269697

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335703_128335707delinsTTATC , CM000667.2:g.128335703_128335707delinsTTATC	GRCh38
NC_000005.9:g.127671395_127671399delinsTTATC , CM000667.1:g.127671395_127671399delinsTTATC	GRCh37
NC_000005.8:g.127699294_127699298delinsTTATC	NCBI36
NG_008750.1:g.207337_207341delinsGATAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.509-130_509-126delinsGATAA
ENST00000703785.1:n.590-130_590-126delinsGATAA
ENST00000262464.9:c.3725-130_3725-126delinsGATAA MANE Select	ENSP00000262464.4:n.3725-130_3725-126delinsGATAA
ENST00000262464.8:c.3725-130_3725-126delinsGATAA	ENSP00000262464.4:n.3725-130_3725-126delinsGATAA
ENST00000507835.5:c.275-130_275-126delinsGATAA	ENSP00000426839.1:n.275-130_275-126delinsGATAA
ENST00000508053.5:c.3725-130_3725-126delinsGATAA	ENSP00000424571.1:n.3725-130_3725-126delinsGATAA
ENST00000508989.5:c.3626-130_3626-126delinsGATAA	ENSP00000425596.1:n.3626-130_3626-126delinsGATAA
ENST00000619499.4:c.3722-130_3722-126delinsGATAA	ENSP00000482132.1:n.3722-130_3722-126delinsGATAA
NM_001999.3:c.3725-130_3725-126delinsGATAA	NP_001990.2:n.3725-130_3725-126delinsGATAA
XM_017009228.2:c.3572-130_3572-126delinsGATAA	XP_016864717.1:n.3572-130_3572-126delinsGATAA
NM_001999.4:c.3725-130_3725-126delinsGATAA MANE Select	NP_001990.2:n.3725-130_3725-126delinsGATAA