Canonical Allele Identifier: CA16611897

Gene: FBN2

Linked Data

• ClinVar Variation Id: 411815
• ClinVar RCV Id: RCV000473636
• dbSNP Id: rs931046977
• MyVariant Identifiers: chr5:g.127673772C>T (hg19) ; chr5:g.128338080C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128338080C>T , CM000667.2:g.128338080C>T	GRCh38
NC_000005.9:g.127673772C>T , CM000667.1:g.127673772C>T	GRCh37
NC_000005.8:g.127701671C>T	NCBI36
NG_008750.1:g.204964G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.299G>A
ENST00000703785.1:n.380G>A
ENST00000262464.9:c.3515G>A MANE Select	ENSP00000262464.4:p.Gly1172Asp
ENST00000262464.8:c.3515G>A	ENSP00000262464.4:p.Gly1172Asp
ENST00000507835.5:c.65G>A	ENSP00000426839.1:p.Gly22Asp
ENST00000508053.5:c.3515G>A	ENSP00000424571.1:p.Gly1172Asp
ENST00000508989.5:c.3416G>A	ENSP00000425596.1:p.Gly1139Asp
ENST00000619499.4:c.3512G>A	ENSP00000482132.1:p.Gly1171Asp
NM_001999.3:c.3515G>A	NP_001990.2:p.Gly1172Asp
XM_017009228.2:c.3362G>A	XP_016864717.1:p.Gly1121Asp
NM_001999.4:c.3515G>A MANE Select	NP_001990.2:p.Gly1172Asp