Canonical Allele Identifier: CA562714850

Gene: FBN2

Linked Data

• dbSNP Id: rs1561775096
• gnomAD v2: 5-127668768-CTAAT-C
• gnomAD v4: 5-128333076-CTAAT-C
• MyVariant Identifiers: chr5:g.127668769_127668772del (hg19) ; chr5:g.128333077_128333080del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128333082_128333085del , CM000667.2:g.128333082_128333085del	GRCh38
NC_000005.9:g.127668774_127668777del , CM000667.1:g.127668774_127668777del	GRCh37
NC_000005.8:g.127696673_127696676del	NCBI36
NG_008750.1:g.209964_209967del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.884-46_884-43del
ENST00000703785.1:n.965-46_965-43del
ENST00000262464.9:c.4100-46_4100-43del MANE Select	ENSP00000262464.4:n.4100-46_4100-43del
ENST00000262464.8:c.4100-46_4100-43del	ENSP00000262464.4:n.4100-46_4100-43del
ENST00000507835.5:c.650-46_650-43del	ENSP00000426839.1:n.650-46_650-43del
ENST00000508053.5:c.4100-46_4100-43del	ENSP00000424571.1:n.4100-46_4100-43del
ENST00000508989.5:c.4001-46_4001-43del	ENSP00000425596.1:n.4001-46_4001-43del
ENST00000619499.4:c.4097-46_4097-43del	ENSP00000482132.1:n.4097-46_4097-43del
NM_001999.3:c.4100-46_4100-43del	NP_001990.2:n.4100-46_4100-43del
XM_017009228.2:c.3947-46_3947-43del	XP_016864717.1:n.3947-46_3947-43del
NM_001999.4:c.4100-46_4100-43del MANE Select	NP_001990.2:n.4100-46_4100-43del