Canonical Allele Identifier: CA320774

Gene: FBN2

Linked Data

• ClinVar Variation Id: 213225
• ClinVar RCV Id: RCV000196355 ; RCV000281793
• dbSNP Id: rs377500777
• ExAC: 5:127681290 G / A
• gnomAD v2: 5-127681290-G-A
• gnomAD v3: 5-128345598-G-A
• gnomAD v4: 5-128345598-G-A
• MyVariant Identifiers: chr5:g.127681290G>A (hg19) ; chr5:g.128345598G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128345598G>A , CM000667.2:g.128345598G>A	GRCh38
NC_000005.9:g.127681290G>A , CM000667.1:g.127681290G>A	GRCh37
NC_000005.8:g.127709189G>A	NCBI36
NG_008750.1:g.197446C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262464.9:c.2990-14C>T MANE Select	ENSP00000262464.4:n.2990-14C>T
ENST00000262464.8:c.2990-14C>T	ENSP00000262464.4:n.2990-14C>T
ENST00000508053.5:c.2990-14C>T	ENSP00000424571.1:n.2990-14C>T
ENST00000508989.5:c.2891-14C>T	ENSP00000425596.1:n.2891-14C>T
ENST00000619499.4:c.2987-14C>T	ENSP00000482132.1:n.2987-14C>T
NM_001999.3:c.2990-14C>T	NP_001990.2:n.2990-14C>T
XM_017009228.2:c.2837-14C>T	XP_016864717.1:n.2837-14C>T
NM_001999.4:c.2990-14C>T MANE Select	NP_001990.2:n.2990-14C>T