Canonical Allele Identifier: CA1581268348

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128332856_128332859delinsAAAG , CM000667.2:g.128332856_128332859delinsAAAG	GRCh38
NC_000005.9:g.127668548_127668551delinsAAAG , CM000667.1:g.127668548_127668551delinsAAAG	GRCh37
NC_000005.8:g.127696447_127696450delinsAAAG	NCBI36
NG_008750.1:g.210185_210188delinsCTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.1006+53_1006+56delinsCTTT
ENST00000703785.1:n.1087+53_1087+56delinsCTTT
ENST00000262464.9:c.4222+53_4222+56delinsCTTT MANE Select	ENSP00000262464.4:n.4222+53_4222+56delinsCTTT
ENST00000262464.8:c.4222+53_4222+56delinsCTTT	ENSP00000262464.4:n.4222+53_4222+56delinsCTTT
ENST00000507835.5:c.772+53_772+56delinsCTTT	ENSP00000426839.1:n.772+53_772+56delinsCTTT
ENST00000508053.5:c.4222+53_4222+56delinsCTTT	ENSP00000424571.1:n.4222+53_4222+56delinsCTTT
ENST00000508989.5:c.4123+53_4123+56delinsCTTT	ENSP00000425596.1:n.4123+53_4123+56delinsCTTT
ENST00000619499.4:c.4219+53_4219+56delinsCTTT	ENSP00000482132.1:n.4219+53_4219+56delinsCTTT
NM_001999.3:c.4222+53_4222+56delinsCTTT	NP_001990.2:n.4222+53_4222+56delinsCTTT
XM_017009228.2:c.4069+53_4069+56delinsCTTT	XP_016864717.1:n.4069+53_4069+56delinsCTTT
NM_001999.4:c.4222+53_4222+56delinsCTTT MANE Select	NP_001990.2:n.4222+53_4222+56delinsCTTT