Canonical Allele Identifier: CA1581270788

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128338164_128338165delinsGA , CM000667.2:g.128338164_128338165delinsGA	GRCh38
NC_000005.9:g.127673856_127673857delinsGA , CM000667.1:g.127673856_127673857delinsGA	GRCh37
NC_000005.8:g.127701755_127701756delinsGA	NCBI36
NG_008750.1:g.204879_204880delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.257-43_257-42delinsTC
ENST00000703785.1:n.338-43_338-42delinsTC
ENST00000262464.9:c.3473-43_3473-42delinsTC MANE Select	ENSP00000262464.4:n.3473-43_3473-42delinsTC
ENST00000262464.8:c.3473-43_3473-42delinsTC	ENSP00000262464.4:n.3473-43_3473-42delinsTC
ENST00000507835.5:c.23-43_23-42delinsTC	ENSP00000426839.1:n.23-43_23-42delinsTC
ENST00000508053.5:c.3473-43_3473-42delinsTC	ENSP00000424571.1:n.3473-43_3473-42delinsTC
ENST00000508989.5:c.3374-43_3374-42delinsTC	ENSP00000425596.1:n.3374-43_3374-42delinsTC
ENST00000619499.4:c.3470-43_3470-42delinsTC	ENSP00000482132.1:n.3470-43_3470-42delinsTC
NM_001999.3:c.3473-43_3473-42delinsTC	NP_001990.2:n.3473-43_3473-42delinsTC
XM_017009228.2:c.3320-43_3320-42delinsTC	XP_016864717.1:n.3320-43_3320-42delinsTC
NM_001999.4:c.3473-43_3473-42delinsTC MANE Select	NP_001990.2:n.3473-43_3473-42delinsTC