Canonical Allele Identifier: CA3395160

Gene: FBN2

Linked Data

• dbSNP Id: rs760864064
• ExAC: 5:127671665 T / C
• gnomAD v2: 5-127671665-T-C
• MyVariant Identifiers: chr5:g.127671665T>C (hg19) ; chr5:g.128335973T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335973T>C , CM000667.2:g.128335973T>C	GRCh38
NC_000005.9:g.127671665T>C , CM000667.1:g.127671665T>C	GRCh37
NC_000005.8:g.127699564T>C	NCBI36
NG_008750.1:g.207071A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.508+15A>G
ENST00000703785.1:n.589+15A>G
ENST00000262464.9:c.3724+15A>G MANE Select	ENSP00000262464.4:n.3724+15A>G
ENST00000262464.8:c.3724+15A>G	ENSP00000262464.4:n.3724+15A>G
ENST00000507835.5:c.274+15A>G	ENSP00000426839.1:n.274+15A>G
ENST00000508053.5:c.3724+15A>G	ENSP00000424571.1:n.3724+15A>G
ENST00000508989.5:c.3625+15A>G	ENSP00000425596.1:n.3625+15A>G
ENST00000619499.4:c.3721+15A>G	ENSP00000482132.1:n.3721+15A>G
NM_001999.3:c.3724+15A>G	NP_001990.2:n.3724+15A>G
XM_017009228.2:c.3571+15A>G	XP_016864717.1:n.3571+15A>G
NM_001999.4:c.3724+15A>G MANE Select	NP_001990.2:n.3724+15A>G