Canonical Allele Identifier: CA2675117819

Gene: FBN2

Linked Data

• gnomAD v4: 5-128339150-G-GTAACA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128339150_128339151insTAACA , CM000667.2:g.128339150_128339151insTAACA	GRCh38
NC_000005.9:g.127674842_127674843insTAACA , CM000667.1:g.127674842_127674843insTAACA	GRCh37
NC_000005.8:g.127702741_127702742insTAACA	NCBI36
NG_008750.1:g.203893_203894insTGTTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.38_39insTGTTA
ENST00000703785.1:n.119_120insTGTTA
ENST00000262464.9:c.3344-90_3344-89insTGTTA MANE Select	ENSP00000262464.4:n.3344-90_3344-89insTGTTA
ENST00000262464.8:c.3344-90_3344-89insTGTTA	ENSP00000262464.4:n.3344-90_3344-89insTGTTA
ENST00000507835.5:c.-197_-196insTGTTA	ENSP00000426839.1:n.-197_-196insTGTTA
ENST00000508053.5:c.3344-90_3344-89insTGTTA	ENSP00000424571.1:n.3344-90_3344-89insTGTTA
ENST00000508989.5:c.3245-90_3245-89insTGTTA	ENSP00000425596.1:n.3245-90_3245-89insTGTTA
ENST00000619499.4:c.3341-90_3341-89insTGTTA	ENSP00000482132.1:n.3341-90_3341-89insTGTTA
NM_001999.3:c.3344-90_3344-89insTGTTA	NP_001990.2:n.3344-90_3344-89insTGTTA
XM_017009228.2:c.3191-90_3191-89insTGTTA	XP_016864717.1:n.3191-90_3191-89insTGTTA
NM_001999.4:c.3344-90_3344-89insTGTTA MANE Select	NP_001990.2:n.3344-90_3344-89insTGTTA