Canonical Allele Identifier: CA324088

Gene: FBN2

Linked Data

• ClinVar Variation Id: 213224
• ClinVar RCV Id: RCV000199548 ; RCV000283683 ; RCV001706174 ; RCV002277504 ; RCV002315578
• dbSNP Id: rs371502563
• ExAC: 5:127693017 A / G
• gnomAD v2: 5-127693017-A-G
• gnomAD v3: 5-128357325-A-G
• gnomAD v4: 5-128357325-A-G
• MyVariant Identifiers: chr5:g.127693017A>G (hg19) ; chr5:g.128357325A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128357325A>G , CM000667.2:g.128357325A>G	GRCh38
NC_000005.9:g.127693017A>G , CM000667.1:g.127693017A>G	GRCh37
NC_000005.8:g.127720916A>G	NCBI36
NG_008750.1:g.185719T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000262464.9:c.2625T>C MANE Select	ENSP00000262464.4:p.Cys875=
ENST00000262464.8:c.2625T>C	ENSP00000262464.4:p.Cys875=
ENST00000508053.5:c.2625T>C	ENSP00000424571.1:p.Cys875=
ENST00000508989.5:c.2526T>C	ENSP00000425596.1:p.Cys842=
ENST00000619499.4:c.2622T>C	ENSP00000482132.1:p.Cys874=
NM_001999.3:c.2625T>C	NP_001990.2:p.Cys875=
XM_017009228.2:c.2472T>C	XP_016864717.1:p.Cys824=
NM_001999.4:c.2625T>C MANE Select	NP_001990.2:p.Cys875=