Canonical Allele Identifier: CA3395899

Gene: FBN2

Linked Data

• ClinVar Variation Id: 350789
• ClinVar RCV Id: RCV000346122 ; RCV000445303
• dbSNP Id: rs769211487
• ExAC: 5:127744355 T / G
• gnomAD v2: 5-127744355-T-G
• gnomAD v3: 5-128408662-T-G
• gnomAD v4: 5-128408662-T-G
• MyVariant Identifiers: chr5:g.127744355T>G (hg19) ; chr5:g.128408662T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128408662T>G , CM000667.2:g.128408662T>G	GRCh38
NC_000005.9:g.127744355T>G , CM000667.1:g.127744355T>G	GRCh37
NC_000005.8:g.127772254T>G	NCBI36
NG_008750.1:g.134381A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000508053.6:c.1078+12A>C	ENSP00000424571.2:n.1078+12A>C
ENST00000703787.1:n.785+12A>C
ENST00000262464.9:c.1078+12A>C MANE Select	ENSP00000262464.4:n.1078+12A>C
ENST00000262464.8:c.1078+12A>C	ENSP00000262464.4:n.1078+12A>C
ENST00000508053.5:c.1078+12A>C	ENSP00000424571.1:n.1078+12A>C
ENST00000508989.5:c.979+12A>C	ENSP00000425596.1:n.979+12A>C
ENST00000619499.4:c.1075+12A>C	ENSP00000482132.1:n.1075+12A>C
NM_001999.3:c.1078+12A>C	NP_001990.2:n.1078+12A>C
XM_017009228.2:c.1078+12A>C	XP_016864717.1:n.1078+12A>C
NM_001999.4:c.1078+12A>C MANE Select	NP_001990.2:n.1078+12A>C