Canonical Allele Identifier: CA2675120692

Gene: FBN2

Linked Data

• gnomAD v4: 5-128395101-GAC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128395102_128395103del , CM000667.2:g.128395102_128395103del	GRCh38
NC_000005.9:g.127730795_127730796del , CM000667.1:g.127730795_127730796del	GRCh37
NC_000005.8:g.127758694_127758695del	NCBI36
NG_008750.1:g.147940_147941del

Transcript Alleles

HGVS	Amino-acid change
ENST00000703787.1:n.938+19_938+20del
ENST00000262464.9:c.1231+19_1231+20del MANE Select	ENSP00000262464.4:n.1231+19_1231+20del
ENST00000262464.8:c.1231+19_1231+20del	ENSP00000262464.4:n.1231+19_1231+20del
ENST00000508053.5:c.1231+19_1231+20del	ENSP00000424571.1:n.1231+19_1231+20del
ENST00000508989.5:c.1132+19_1132+20del	ENSP00000425596.1:n.1132+19_1132+20del
ENST00000619499.4:c.1228+19_1228+20del	ENSP00000482132.1:n.1228+19_1228+20del
NM_001999.3:c.1231+19_1231+20del	NP_001990.2:n.1231+19_1231+20del
XM_017009228.2:c.1079-1735_1079-1734del	XP_016864717.1:n.1079-1735_1079-1734del
NM_001999.4:c.1231+19_1231+20del MANE Select	NP_001990.2:n.1231+19_1231+20del