Canonical Allele Identifier: CA562715660

Gene: FBN2

Linked Data

• dbSNP Id: rs1561776978
• gnomAD v2: 5-127671748-AT-A
• gnomAD v3: 5-128336056-AT-A
• gnomAD v4: 5-128336056-AT-A
• MyVariant Identifiers: chr5:g.127671749del (hg19) ; chr5:g.128336057del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128336057del , CM000667.2:g.128336057del	GRCh38
NC_000005.9:g.127671749del , CM000667.1:g.127671749del	GRCh37
NC_000005.8:g.127699648del	NCBI36
NG_008750.1:g.206987del

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.439del
ENST00000703785.1:n.520del
ENST00000262464.9:c.3655del MANE Select	ENSP00000262464.4:p.Met1219Ter
ENST00000262464.8:c.3655del	ENSP00000262464.4:p.Met1219Ter
ENST00000507835.5:c.205del	ENSP00000426839.1:p.Met69Ter
ENST00000508053.5:c.3655del	ENSP00000424571.1:p.Met1219Ter
ENST00000508989.5:c.3556del	ENSP00000425596.1:p.Met1186Ter
ENST00000619499.4:c.3652del	ENSP00000482132.1:p.Met1218Ter
NM_001999.3:c.3655del	NP_001990.2:p.Met1219Ter
XM_017009228.2:c.3502del	XP_016864717.1:p.Met1168Ter
NM_001999.4:c.3655del MANE Select	NP_001990.2:p.Met1219Ter