Canonical Allele Identifier: CA562715411

Gene: FBN2

Linked Data

• dbSNP Id: rs1418342942
• gnomAD v2: 5-127671099-G-GA
• gnomAD v4: 5-128335407-G-GA
• MyVariant Identifiers: chr5:g.127671099_127671100insA (hg19) ; chr5:g.128335407_128335408insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335413dup , CM000667.2:g.128335413dup	GRCh38
NC_000005.9:g.127671105dup , CM000667.1:g.127671105dup	GRCh37
NC_000005.8:g.127699004dup	NCBI36
NG_008750.1:g.207636dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.631+47dup
ENST00000703785.1:n.712+47dup
ENST00000262464.9:c.3847+47dup MANE Select	ENSP00000262464.4:n.3847+47dup
ENST00000262464.8:c.3847+47dup	ENSP00000262464.4:n.3847+47dup
ENST00000507835.5:c.397+47dup	ENSP00000426839.1:n.397+47dup
ENST00000508053.5:c.3847+47dup	ENSP00000424571.1:n.3847+47dup
ENST00000508989.5:c.3748+47dup	ENSP00000425596.1:n.3748+47dup
ENST00000619499.4:c.3844+47dup	ENSP00000482132.1:n.3844+47dup
NM_001999.3:c.3847+47dup	NP_001990.2:n.3847+47dup
XM_017009228.2:c.3694+47dup	XP_016864717.1:n.3694+47dup
NM_001999.4:c.3847+47dup MANE Select	NP_001990.2:n.3847+47dup