Canonical Allele Identifier: CA803626348

Gene: FBN2

Linked Data

• dbSNP Id: rs1186121225
• gnomAD v3: 5-128357144-T-TA
• gnomAD v4: 5-128357144-T-TA
• MyVariant Identifiers: chr5:g.127692836_127692837insA (hg19) ; chr5:g.128357144_128357145insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128357149dup , CM000667.2:g.128357149dup	GRCh38
NC_000005.9:g.127692841dup , CM000667.1:g.127692841dup	GRCh37
NC_000005.8:g.127720740dup	NCBI36
NG_008750.1:g.185899dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262464.9:c.2674+131dup MANE Select	ENSP00000262464.4:n.2674+131dup
ENST00000262464.8:c.2674+131dup	ENSP00000262464.4:n.2674+131dup
ENST00000508053.5:c.2674+131dup	ENSP00000424571.1:n.2674+131dup
ENST00000508989.5:c.2575+131dup	ENSP00000425596.1:n.2575+131dup
ENST00000619499.4:c.2671+131dup	ENSP00000482132.1:n.2671+131dup
NM_001999.3:c.2674+131dup	NP_001990.2:n.2674+131dup
XM_017009228.2:c.2521+131dup	XP_016864717.1:n.2521+131dup
NM_001999.4:c.2674+131dup MANE Select	NP_001990.2:n.2674+131dup