Canonical Allele Identifier: CA323605

Gene: FBN2

Linked Data

• ClinVar Variation Id: 213254
• ClinVar RCV Id: RCV000228951 ; RCV000659022 ; RCV002310775 ; RCV002277512 ; RCV003330563 ; RCV003927824
• dbSNP Id: rs142755118
• ExAC: 5:127599227 G / T
• gnomAD v2: 5-127599227-G-T
• gnomAD v3: 5-128263535-G-T
• gnomAD v4: 5-128263535-G-T
• MyVariant Identifiers: chr5:g.127599227G>T (hg19) ; chr5:g.128263535G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128263535G>T , CM000667.2:g.128263535G>T	GRCh38
NC_000005.9:g.127599227G>T , CM000667.1:g.127599227G>T	GRCh37
NC_000005.8:g.127627126G>T	NCBI36
NG_008750.1:g.279509C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703782.1:n.197C>A
ENST00000262464.9:c.8082C>A MANE Select	ENSP00000262464.4:p.His2694Gln
ENST00000262464.8:c.8082C>A	ENSP00000262464.4:p.His2694Gln
ENST00000508053.5:c.8082C>A	ENSP00000424571.1:p.His2694Gln
ENST00000619499.4:c.8079C>A	ENSP00000482132.1:p.His2693Gln
NM_001999.3:c.8082C>A	NP_001990.2:p.His2694Gln
XM_017009228.2:c.7929C>A	XP_016864717.1:p.His2643Gln
NM_001999.4:c.8082C>A MANE Select	NP_001990.2:p.His2694Gln