Canonical Allele Identifier: CA324896

Gene: FBN2

Linked Data

• ClinVar Variation Id: 213247
• ClinVar RCV Id: RCV000200338 ; RCV000230795 ; RCV001706175 ; RCV002315581
• dbSNP Id: rs192923239
• ExAC: 5:127624221 C / T
• gnomAD v2: 5-127624221-C-T
• gnomAD v3: 5-128288529-C-T
• gnomAD v4: 5-128288529-C-T
• MyVariant Identifiers: chr5:g.127624221C>T (hg19) ; chr5:g.128288529C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128288529C>T , CM000667.2:g.128288529C>T	GRCh38
NC_000005.9:g.127624221C>T , CM000667.1:g.127624221C>T	GRCh37
NC_000005.8:g.127652120C>T	NCBI36
NG_008750.1:g.254515G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.3450G>A
ENST00000703785.1:n.3369G>A
ENST00000262464.9:c.6666G>A MANE Select	ENSP00000262464.4:p.Pro2222=
ENST00000262464.8:c.6666G>A	ENSP00000262464.4:p.Pro2222=
ENST00000508053.5:c.6666G>A	ENSP00000424571.1:p.Pro2222=
ENST00000619499.4:c.6663G>A	ENSP00000482132.1:p.Pro2221=
NM_001999.3:c.6666G>A	NP_001990.2:p.Pro2222=
XM_017009228.2:c.6513G>A	XP_016864717.1:p.Pro2171=
NM_001999.4:c.6666G>A MANE Select	NP_001990.2:p.Pro2222=