Canonical Allele Identifier: CA3395122

Gene: FBN2

Linked Data

• dbSNP Id: rs765281440
• ExAC: 5:127671096 CA / C
• gnomAD v2: 5-127671096-CA-C
• gnomAD v3: 5-128335404-CA-C
• gnomAD v4: 5-128335404-CA-C
• MyVariant Identifiers: chr5:g.127671097del (hg19) ; chr5:g.128335405del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335406del , CM000667.2:g.128335406del	GRCh38
NC_000005.9:g.127671098del , CM000667.1:g.127671098del	GRCh37
NC_000005.8:g.127698997del	NCBI36
NG_008750.1:g.207639del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.631+50del
ENST00000703785.1:n.712+50del
ENST00000262464.9:c.3847+50del MANE Select	ENSP00000262464.4:n.3847+50del
ENST00000262464.8:c.3847+50del	ENSP00000262464.4:n.3847+50del
ENST00000507835.5:c.397+50del	ENSP00000426839.1:n.397+50del
ENST00000508053.5:c.3847+50del	ENSP00000424571.1:n.3847+50del
ENST00000508989.5:c.3748+50del	ENSP00000425596.1:n.3748+50del
ENST00000619499.4:c.3844+50del	ENSP00000482132.1:n.3844+50del
NM_001999.3:c.3847+50del	NP_001990.2:n.3847+50del
XM_017009228.2:c.3694+50del	XP_016864717.1:n.3694+50del
NM_001999.4:c.3847+50del MANE Select	NP_001990.2:n.3847+50del