Canonical Allele Identifier: CA3394844

Gene: FBN2

Linked Data

• ClinVar Variation Id: 511317
• ClinVar RCV Id: RCV000606677
• dbSNP Id: rs555328744
• ExAC: 5:127648319 T / C
• gnomAD v2: 5-127648319-T-C
• gnomAD v3: 5-128312627-T-C
• gnomAD v4: 5-128312627-T-C
• MyVariant Identifiers: chr5:g.127648319T>C (hg19) ; chr5:g.128312627T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128312627T>C , CM000667.2:g.128312627T>C	GRCh38
NC_000005.9:g.127648319T>C , CM000667.1:g.127648319T>C	GRCh37
NC_000005.8:g.127676218T>C	NCBI36
NG_008750.1:g.230417A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.1663+7A>G
ENST00000703785.1:n.1583-674A>G
ENST00000262464.9:c.4879+7A>G MANE Select	ENSP00000262464.4:n.4879+7A>G
ENST00000262464.8:c.4879+7A>G	ENSP00000262464.4:n.4879+7A>G
ENST00000508053.5:c.4879+7A>G	ENSP00000424571.1:n.4879+7A>G
ENST00000619499.4:c.4876+7A>G	ENSP00000482132.1:n.4876+7A>G
NM_001999.3:c.4879+7A>G	NP_001990.2:n.4879+7A>G
XM_017009228.2:c.4726+7A>G	XP_016864717.1:n.4726+7A>G
NM_001999.4:c.4879+7A>G MANE Select	NP_001990.2:n.4879+7A>G