Canonical Allele Identifier: CA3394511

Gene: FBN2

Linked Data

• ClinVar Variation Id: 2733648
• ClinVar RCV Id: RCV003527173
• dbSNP Id: rs767514749
• ExAC: 5:127636641 A / G
• gnomAD v2: 5-127636641-A-G
• gnomAD v4: 5-128300949-A-G
• MyVariant Identifiers: chr5:g.127636641A>G (hg19) ; chr5:g.128300949A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128300949A>G , CM000667.2:g.128300949A>G	GRCh38
NC_000005.9:g.127636641A>G , CM000667.1:g.127636641A>G	GRCh37
NC_000005.8:g.127664540A>G	NCBI36
NG_008750.1:g.242095T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.2831-13T>C
ENST00000703785.1:n.2750-13T>C
ENST00000262464.9:c.6047-13T>C MANE Select	ENSP00000262464.4:n.6047-13T>C
ENST00000262464.8:c.6047-13T>C	ENSP00000262464.4:n.6047-13T>C
ENST00000508053.5:c.6047-13T>C	ENSP00000424571.1:n.6047-13T>C
ENST00000619499.4:c.6044-13T>C	ENSP00000482132.1:n.6044-13T>C
NM_001999.3:c.6047-13T>C	NP_001990.2:n.6047-13T>C
XM_017009228.2:c.5894-13T>C	XP_016864717.1:n.5894-13T>C
NM_001999.4:c.6047-13T>C MANE Select	NP_001990.2:n.6047-13T>C