Canonical Allele Identifier: CA2768339999

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128527995_128527996insCC , CM000667.2:g.128527995_128527996insCC	GRCh38
NC_000005.9:g.127863688_127863689insCC , CM000667.1:g.127863688_127863689insCC	GRCh37
NC_000005.8:g.127891587_127891588insCC	NCBI36
NG_008750.1:g.15047_15048insGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000508053.6:c.437-29_437-28insGG	ENSP00000424571.2:n.437-29_437-28insGG
ENST00000703787.1:n.144-29_144-28insGG
ENST00000262464.9:c.437-29_437-28insGG MANE Select	ENSP00000262464.4:n.437-29_437-28insGG
ENST00000262464.8:c.437-29_437-28insGG	ENSP00000262464.4:n.437-29_437-28insGG
ENST00000502468.5:c.437-29_437-28insGG	ENSP00000424753.1:n.437-29_437-28insGG
ENST00000508053.5:c.437-29_437-28insGG	ENSP00000424571.1:n.437-29_437-28insGG
ENST00000508989.5:c.338-29_338-28insGG	ENSP00000425596.1:n.338-29_338-28insGG
ENST00000514742.1:n.1057-29_1057-28insGG
ENST00000619499.4:c.437-29_437-28insGG	ENSP00000482132.1:n.437-29_437-28insGG
ENST00000620257.1:c.437-29_437-28insGG	ENSP00000479157.1:n.437-29_437-28insGG
NM_001999.3:c.437-29_437-28insGG	NP_001990.2:n.437-29_437-28insGG
XM_017009228.2:c.437-29_437-28insGG	XP_016864717.1:n.437-29_437-28insGG
NM_001999.4:c.437-29_437-28insGG MANE Select	NP_001990.2:n.437-29_437-28insGG