Canonical Allele Identifier: CA2675118113

Gene: FBN2

Linked Data

• gnomAD v4: 5-128344321-CTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128344323_128344324del , CM000667.2:g.128344323_128344324del	GRCh38
NC_000005.9:g.127680015_127680016del , CM000667.1:g.127680015_127680016del	GRCh37
NC_000005.8:g.127707914_127707915del	NCBI36
NG_008750.1:g.198721_198722del

Transcript Alleles

HGVS	Amino-acid change
ENST00000262464.9:c.3343+62_3343+63del MANE Select	ENSP00000262464.4:n.3343+62_3343+63del
ENST00000262464.8:c.3343+62_3343+63del	ENSP00000262464.4:n.3343+62_3343+63del
ENST00000508053.5:c.3343+62_3343+63del	ENSP00000424571.1:n.3343+62_3343+63del
ENST00000508989.5:c.3244+62_3244+63del	ENSP00000425596.1:n.3244+62_3244+63del
ENST00000619499.4:c.3340+62_3340+63del	ENSP00000482132.1:n.3340+62_3340+63del
NM_001999.3:c.3343+62_3343+63del	NP_001990.2:n.3343+62_3343+63del
XM_017009228.2:c.3190+62_3190+63del	XP_016864717.1:n.3190+62_3190+63del
NM_001999.4:c.3343+62_3343+63del MANE Select	NP_001990.2:n.3343+62_3343+63del