Canonical Allele Identifier: CA323357

Gene: FBN2

Linked Data

• ClinVar Variation Id: 213337
• ClinVar RCV Id: RCV000198829 ; RCV000463573 ; RCV002315585 ; RCV003987442
• dbSNP Id: rs201113098
• ExAC: 5:127645017 T / G
• gnomAD v2: 5-127645017-T-G
• gnomAD v3: 5-128309325-T-G
• gnomAD v4: 5-128309325-T-G
• MyVariant Identifiers: chr5:g.127645017T>G (hg19) ; chr5:g.128309325T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128309325T>G , CM000667.2:g.128309325T>G	GRCh38
NC_000005.9:g.127645017T>G , CM000667.1:g.127645017T>G	GRCh37
NC_000005.8:g.127672916T>G	NCBI36
NG_008750.1:g.233719A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.2059A>C
ENST00000703785.1:n.1978A>C
ENST00000262464.9:c.5275A>C MANE Select	ENSP00000262464.4:p.Lys1759Gln
ENST00000262464.8:c.5275A>C	ENSP00000262464.4:p.Lys1759Gln
ENST00000508053.5:c.5275A>C	ENSP00000424571.1:p.Lys1759Gln
ENST00000619499.4:c.5272A>C	ENSP00000482132.1:p.Lys1758Gln
NM_001999.3:c.5275A>C	NP_001990.2:p.Lys1759Gln
XM_017009228.2:c.5122A>C	XP_016864717.1:p.Lys1708Gln
NM_001999.4:c.5275A>C MANE Select	NP_001990.2:p.Lys1759Gln