Canonical Allele Identifier: CA2675114519

Gene: FBN2

Linked Data

• gnomAD v4: 5-128305089-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128305091_128305092del , CM000667.2:g.128305091_128305092del	GRCh38
NC_000005.9:g.127640783_127640784del , CM000667.1:g.127640783_127640784del	GRCh37
NC_000005.8:g.127668682_127668683del	NCBI36
NG_008750.1:g.237953_237954del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.2459-9_2459-8del
ENST00000703785.1:n.2378-9_2378-8del
ENST00000262464.9:c.5675-9_5675-8del MANE Select	ENSP00000262464.4:n.5675-9_5675-8del
ENST00000262464.8:c.5675-9_5675-8del	ENSP00000262464.4:n.5675-9_5675-8del
ENST00000508053.5:c.5675-9_5675-8del	ENSP00000424571.1:n.5675-9_5675-8del
ENST00000619499.4:c.5672-9_5672-8del	ENSP00000482132.1:n.5672-9_5672-8del
NM_001999.3:c.5675-9_5675-8del	NP_001990.2:n.5675-9_5675-8del
XM_017009228.2:c.5522-9_5522-8del	XP_016864717.1:n.5522-9_5522-8del
NM_001999.4:c.5675-9_5675-8del MANE Select	NP_001990.2:n.5675-9_5675-8del