Canonical Allele Identifier: CA3395325

Gene: FBN2

Linked Data

• ClinVar Variation Id: 519852
• ClinVar RCV Id: RCV002313333 ; RCV003525933
• dbSNP Id: rs199938409
• ExAC: 5:127681152 C / G
• gnomAD v2: 5-127681152-C-G
• gnomAD v3: 5-128345460-C-G
• gnomAD v4: 5-128345460-C-G
• MyVariant Identifiers: chr5:g.127681152C>G (hg19) ; chr5:g.128345460C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128345460C>G , CM000667.2:g.128345460C>G	GRCh38
NC_000005.9:g.127681152C>G , CM000667.1:g.127681152C>G	GRCh37
NC_000005.8:g.127709051C>G	NCBI36
NG_008750.1:g.197584G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262464.9:c.3114G>C MANE Select	ENSP00000262464.4:p.Glu1038Asp
ENST00000262464.8:c.3114G>C	ENSP00000262464.4:p.Glu1038Asp
ENST00000508053.5:c.3114G>C	ENSP00000424571.1:p.Glu1038Asp
ENST00000508989.5:c.3015G>C	ENSP00000425596.1:p.Glu1005Asp
ENST00000619499.4:c.3111G>C	ENSP00000482132.1:p.Glu1037Asp
NM_001999.3:c.3114G>C	NP_001990.2:p.Glu1038Asp
XM_017009228.2:c.2961G>C	XP_016864717.1:p.Glu987Asp
NM_001999.4:c.3114G>C MANE Select	NP_001990.2:p.Glu1038Asp