Canonical Allele Identifier: CA2675116598

Gene: FBN2

Linked Data

• gnomAD v4: 5-128330517-CAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128330521_128330522del , CM000667.2:g.128330521_128330522del	GRCh38
NC_000005.9:g.127666213_127666214del , CM000667.1:g.127666213_127666214del	GRCh37
NC_000005.8:g.127694112_127694113del	NCBI36
NG_008750.1:g.212525_212526del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.1129+54_1129+55del
ENST00000703785.1:n.1210+54_1210+55del
ENST00000262464.9:c.4345+54_4345+55del MANE Select	ENSP00000262464.4:n.4345+54_4345+55del
ENST00000262464.8:c.4345+54_4345+55del	ENSP00000262464.4:n.4345+54_4345+55del
ENST00000507835.5:c.895+54_895+55del	ENSP00000426839.1:n.895+54_895+55del
ENST00000508053.5:c.4345+54_4345+55del	ENSP00000424571.1:n.4345+54_4345+55del
ENST00000508989.5:c.4246+54_4246+55del	ENSP00000425596.1:n.4246+54_4246+55del
ENST00000619499.4:c.4342+54_4342+55del	ENSP00000482132.1:n.4342+54_4342+55del
NM_001999.3:c.4345+54_4345+55del	NP_001990.2:n.4345+54_4345+55del
XM_017009228.2:c.4192+54_4192+55del	XP_016864717.1:n.4192+54_4192+55del
NM_001999.4:c.4345+54_4345+55del MANE Select	NP_001990.2:n.4345+54_4345+55del