Canonical Allele Identifier: CA360759363

Gene: FBN2

Linked Data

• ClinVar Variation Id: 2136329
• ClinVar RCV Id: RCV003037119
• MyVariant Identifiers: chr5:g.127673752C>A (hg19) ; chr5:g.128338060C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128338060C>A , CM000667.2:g.128338060C>A	GRCh38
NC_000005.9:g.127673752C>A , CM000667.1:g.127673752C>A	GRCh37
NC_000005.8:g.127701651C>A	NCBI36
NG_008750.1:g.204984G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.319G>T
ENST00000703785.1:n.400G>T
ENST00000262464.9:c.3535G>T MANE Select	ENSP00000262464.4:p.Gly1179Cys
ENST00000262464.8:c.3535G>T	ENSP00000262464.4:p.Gly1179Cys
ENST00000507835.5:c.85G>T	ENSP00000426839.1:p.Gly29Cys
ENST00000508053.5:c.3535G>T	ENSP00000424571.1:p.Gly1179Cys
ENST00000508989.5:c.3436G>T	ENSP00000425596.1:p.Gly1146Cys
ENST00000619499.4:c.3532G>T	ENSP00000482132.1:p.Gly1178Cys
NM_001999.3:c.3535G>T	NP_001990.2:p.Gly1179Cys
XM_017009228.2:c.3382G>T	XP_016864717.1:p.Gly1128Cys
NM_001999.4:c.3535G>T MANE Select	NP_001990.2:p.Gly1179Cys