Canonical Allele Identifier: CA3394818

Gene: FBN2

Linked Data

• ClinVar Variation Id: 258519
• ClinVar RCV Id: RCV000247990 ; RCV002058095
• dbSNP Id: rs372234336
• ExAC: 5:127647135 G / C
• gnomAD v2: 5-127647135-G-C
• gnomAD v3: 5-128311443-G-C
• gnomAD v4: 5-128311443-G-C
• MyVariant Identifiers: chr5:g.127647135G>C (hg19) ; chr5:g.128311443G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128311443G>C , CM000667.2:g.128311443G>C	GRCh38
NC_000005.9:g.127647135G>C , CM000667.1:g.127647135G>C	GRCh37
NC_000005.8:g.127675034G>C	NCBI36
NG_008750.1:g.231601C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.1733-18C>G
ENST00000703785.1:n.1652-18C>G
ENST00000262464.9:c.4949-18C>G MANE Select	ENSP00000262464.4:n.4949-18C>G
ENST00000262464.8:c.4949-18C>G	ENSP00000262464.4:n.4949-18C>G
ENST00000508053.5:c.4949-18C>G	ENSP00000424571.1:n.4949-18C>G
ENST00000619499.4:c.4946-18C>G	ENSP00000482132.1:n.4946-18C>G
NM_001999.3:c.4949-18C>G	NP_001990.2:n.4949-18C>G
XM_017009228.2:c.4796-18C>G	XP_016864717.1:n.4796-18C>G
NM_001999.4:c.4949-18C>G MANE Select	NP_001990.2:n.4949-18C>G