Canonical Allele Identifier: CA360759412

Gene: FBN2

Linked Data

• ClinVar Variation Id: 1346549
• ClinVar RCV Id: RCV002050144
• dbSNP Id: rs1581226080
• gnomAD v3: 5-128338074-C-T
• gnomAD v4: 5-128338074-C-T
• MyVariant Identifiers: chr5:g.127673766C>T (hg19) ; chr5:g.128338074C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128338074C>T , CM000667.2:g.128338074C>T	GRCh38
NC_000005.9:g.127673766C>T , CM000667.1:g.127673766C>T	GRCh37
NC_000005.8:g.127701665C>T	NCBI36
NG_008750.1:g.204970G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.305G>A
ENST00000703785.1:n.386G>A
ENST00000262464.9:c.3521G>A MANE Select	ENSP00000262464.4:p.Cys1174Tyr
ENST00000262464.8:c.3521G>A	ENSP00000262464.4:p.Cys1174Tyr
ENST00000507835.5:c.71G>A	ENSP00000426839.1:p.Cys24Tyr
ENST00000508053.5:c.3521G>A	ENSP00000424571.1:p.Cys1174Tyr
ENST00000508989.5:c.3422G>A	ENSP00000425596.1:p.Cys1141Tyr
ENST00000619499.4:c.3518G>A	ENSP00000482132.1:p.Cys1173Tyr
NM_001999.3:c.3521G>A	NP_001990.2:p.Cys1174Tyr
XM_017009228.2:c.3368G>A	XP_016864717.1:p.Cys1123Tyr
NM_001999.4:c.3521G>A MANE Select	NP_001990.2:p.Cys1174Tyr