Canonical Allele Identifier: CA562715392

Gene: FBN2

Linked Data

• dbSNP Id: rs1561776481
• gnomAD v2: 5-127671025-TGTC-T
• gnomAD v4: 5-128335333-TGTC-T
• MyVariant Identifiers: chr5:g.127671026_127671028del (hg19) ; chr5:g.128335334_128335336del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335336_128335338del , CM000667.2:g.128335336_128335338del	GRCh38
NC_000005.9:g.127671028_127671030del , CM000667.1:g.127671028_127671030del	GRCh37
NC_000005.8:g.127698927_127698929del	NCBI36
NG_008750.1:g.207708_207710del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.632-41_632-39del
ENST00000703785.1:n.713-41_713-39del
ENST00000262464.9:c.3848-41_3848-39del MANE Select	ENSP00000262464.4:n.3848-41_3848-39del
ENST00000262464.8:c.3848-41_3848-39del	ENSP00000262464.4:n.3848-41_3848-39del
ENST00000507835.5:c.398-41_398-39del	ENSP00000426839.1:n.398-41_398-39del
ENST00000508053.5:c.3848-41_3848-39del	ENSP00000424571.1:n.3848-41_3848-39del
ENST00000508989.5:c.3749-41_3749-39del	ENSP00000425596.1:n.3749-41_3749-39del
ENST00000619499.4:c.3845-41_3845-39del	ENSP00000482132.1:n.3845-41_3845-39del
NM_001999.3:c.3848-41_3848-39del	NP_001990.2:n.3848-41_3848-39del
XM_017009228.2:c.3695-41_3695-39del	XP_016864717.1:n.3695-41_3695-39del
NM_001999.4:c.3848-41_3848-39del MANE Select	NP_001990.2:n.3848-41_3848-39del