Canonical Allele Identifier: CA10622492

Gene: FBN2

Linked Data

• ClinVar Variation Id: 350791
• ClinVar RCV Id: RCV000354446
• dbSNP Id: rs764473594
• MyVariant Identifiers: chr5:g.127800598C>A (hg19) ; chr5:g.128464905C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128464905C>A , CM000667.2:g.128464905C>A	GRCh38
NC_000005.9:g.127800598C>A , CM000667.1:g.127800598C>A	GRCh37
NC_000005.8:g.127828497C>A	NCBI36
NG_008750.1:g.78138G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000508053.6:c.645G>T	ENSP00000424571.2:p.Pro215=
ENST00000703787.1:n.352G>T
ENST00000262464.9:c.645G>T MANE Select	ENSP00000262464.4:p.Pro215=
ENST00000262464.8:c.645G>T	ENSP00000262464.4:p.Pro215=
ENST00000502468.5:c.645G>T	ENSP00000424753.1:p.Pro215=
ENST00000508053.5:c.645G>T	ENSP00000424571.1:p.Pro215=
ENST00000508989.5:c.546G>T	ENSP00000425596.1:p.Pro182=
ENST00000514742.1:n.1265G>T
ENST00000619499.4:c.642G>T	ENSP00000482132.1:p.Pro214=
ENST00000620257.1:c.645G>T	ENSP00000479157.1:p.Pro215=
NM_001999.3:c.645G>T	NP_001990.2:p.Pro215=
XM_017009228.2:c.645G>T	XP_016864717.1:p.Pro215=
NM_001999.4:c.645G>T MANE Select	NP_001990.2:p.Pro215=