Canonical Allele Identifier: CA3394478

Gene: FBN2

Linked Data

• ClinVar Variation Id: 350768
• ClinVar RCV Id: RCV000265109 ; RCV002278582 ; RCV001706571 ; RCV002356481 ; RCV004526669
• dbSNP Id: rs370981323
• ExAC: 5:127627350 C / T
• gnomAD v2: 5-127627350-C-T
• gnomAD v3: 5-128291658-C-T
• gnomAD v4: 5-128291658-C-T
• MyVariant Identifiers: chr5:g.127627350C>T (hg19) ; chr5:g.128291658C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128291658C>T , CM000667.2:g.128291658C>T	GRCh38
NC_000005.9:g.127627350C>T , CM000667.1:g.127627350C>T	GRCh37
NC_000005.8:g.127655249C>T	NCBI36
NG_008750.1:g.251386G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.2951-4G>A
ENST00000703785.1:n.2870-4G>A
ENST00000262464.9:c.6167-4G>A MANE Select	ENSP00000262464.4:n.6167-4G>A
ENST00000262464.8:c.6167-4G>A	ENSP00000262464.4:n.6167-4G>A
ENST00000508053.5:c.6167-4G>A	ENSP00000424571.1:n.6167-4G>A
ENST00000619499.4:c.6164-4G>A	ENSP00000482132.1:n.6164-4G>A
NM_001999.3:c.6167-4G>A	NP_001990.2:n.6167-4G>A
XM_017009228.2:c.6014-4G>A	XP_016864717.1:n.6014-4G>A
NM_001999.4:c.6167-4G>A MANE Select	NP_001990.2:n.6167-4G>A