Canonical Allele Identifier: CA3395217

Gene: FBN2

Linked Data

• ClinVar Variation Id: 2581340
• ClinVar RCV Id: RCV003331745 ; RCV003641086
• dbSNP Id: rs754554723
• ExAC: 5:127673830 G / A
• gnomAD v2: 5-127673830-G-A
• gnomAD v3: 5-128338138-G-A
• gnomAD v4: 5-128338138-G-A
• MyVariant Identifiers: chr5:g.127673830G>A (hg19) ; chr5:g.128338138G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128338138G>A , CM000667.2:g.128338138G>A	GRCh38
NC_000005.9:g.127673830G>A , CM000667.1:g.127673830G>A	GRCh37
NC_000005.8:g.127701729G>A	NCBI36
NG_008750.1:g.204906C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.257-16C>T
ENST00000703785.1:n.338-16C>T
ENST00000262464.9:c.3473-16C>T MANE Select	ENSP00000262464.4:n.3473-16C>T
ENST00000262464.8:c.3473-16C>T	ENSP00000262464.4:n.3473-16C>T
ENST00000507835.5:c.23-16C>T	ENSP00000426839.1:n.23-16C>T
ENST00000508053.5:c.3473-16C>T	ENSP00000424571.1:n.3473-16C>T
ENST00000508989.5:c.3374-16C>T	ENSP00000425596.1:n.3374-16C>T
ENST00000619499.4:c.3470-16C>T	ENSP00000482132.1:n.3470-16C>T
NM_001999.3:c.3473-16C>T	NP_001990.2:n.3473-16C>T
XM_017009228.2:c.3320-16C>T	XP_016864717.1:n.3320-16C>T
NM_001999.4:c.3473-16C>T MANE Select	NP_001990.2:n.3473-16C>T