Canonical Allele Identifier: CA319708

Gene: FBN2

Linked Data

• ClinVar Variation Id: 210998
• ClinVar RCV Id: RCV000193392 ; RCV000395130 ; RCV002314815 ; RCV001721251
• dbSNP Id: rs149071226
• ExAC: 5:127624905 T / A
• gnomAD v2: 5-127624905-T-A
• gnomAD v3: 5-128289213-T-A
• gnomAD v4: 5-128289213-T-A
• MyVariant Identifiers: chr5:g.127624905T>A (hg19) ; chr5:g.128289213T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128289213T>A , CM000667.2:g.128289213T>A	GRCh38
NC_000005.9:g.127624905T>A , CM000667.1:g.127624905T>A	GRCh37
NC_000005.8:g.127652804T>A	NCBI36
NG_008750.1:g.253831A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.3335A>T
ENST00000703785.1:n.3254A>T
ENST00000262464.9:c.6551A>T MANE Select	ENSP00000262464.4:p.Asn2184Ile
ENST00000262464.8:c.6551A>T	ENSP00000262464.4:p.Asn2184Ile
ENST00000508053.5:c.6551A>T	ENSP00000424571.1:p.Asn2184Ile
ENST00000619499.4:c.6548A>T	ENSP00000482132.1:p.Asn2183Ile
NM_001999.3:c.6551A>T	NP_001990.2:p.Asn2184Ile
XM_017009228.2:c.6398A>T	XP_016864717.1:p.Asn2133Ile
NM_001999.4:c.6551A>T MANE Select	NP_001990.2:p.Asn2184Ile