Canonical Allele Identifier: CA3395001

Gene: FBN2

Linked Data

• ClinVar Variation Id: 1739863
• ClinVar RCV Id: RCV002332200 ; RCV003775872
• dbSNP Id: rs752480206
• ExAC: 5:127666269 G / A
• gnomAD v2: 5-127666269-G-A
• gnomAD v3: 5-128330577-G-A
• gnomAD v4: 5-128330577-G-A
• MyVariant Identifiers: chr5:g.127666269G>A (hg19) ; chr5:g.128330577G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128330577G>A , CM000667.2:g.128330577G>A	GRCh38
NC_000005.9:g.127666269G>A , CM000667.1:g.127666269G>A	GRCh37
NC_000005.8:g.127694168G>A	NCBI36
NG_008750.1:g.212467C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.1125C>T
ENST00000703785.1:n.1206C>T
ENST00000262464.9:c.4341C>T MANE Select	ENSP00000262464.4:p.Cys1447=
ENST00000262464.8:c.4341C>T	ENSP00000262464.4:p.Cys1447=
ENST00000507835.5:c.891C>T	ENSP00000426839.1:p.Cys297=
ENST00000508053.5:c.4341C>T	ENSP00000424571.1:p.Cys1447=
ENST00000508989.5:c.4242C>T	ENSP00000425596.1:p.Cys1414=
ENST00000619499.4:c.4338C>T	ENSP00000482132.1:p.Cys1446=
NM_001999.3:c.4341C>T	NP_001990.2:p.Cys1447=
XM_017009228.2:c.4188C>T	XP_016864717.1:p.Cys1396=
NM_001999.4:c.4341C>T MANE Select	NP_001990.2:p.Cys1447=