Canonical Allele Identifier: CA3394222

Gene: FBN2

Linked Data

• ClinVar Variation Id: 416903
• ClinVar RCV Id: RCV000463820 ; RCV001153899 ; RCV002313234
• dbSNP Id: rs765676702
• ExAC: 5:127615885 A / C
• gnomAD v2: 5-127615885-A-C
• gnomAD v3: 5-128280193-A-C
• gnomAD v4: 5-128280193-A-C
• MyVariant Identifiers: chr5:g.127615885A>C (hg19) ; chr5:g.128280193A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128280193A>C , CM000667.2:g.128280193A>C	GRCh38
NC_000005.9:g.127615885A>C , CM000667.1:g.127615885A>C	GRCh37
NC_000005.8:g.127643784A>C	NCBI36
NG_008750.1:g.262851T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.3921T>G
ENST00000262464.9:c.7137T>G MANE Select	ENSP00000262464.4:p.Leu2379=
ENST00000262464.8:c.7137T>G	ENSP00000262464.4:p.Leu2379=
ENST00000508053.5:c.7137T>G	ENSP00000424571.1:p.Leu2379=
ENST00000619499.4:c.7134T>G	ENSP00000482132.1:p.Leu2378=
NM_001999.3:c.7137T>G	NP_001990.2:p.Leu2379=
XM_017009228.2:c.6984T>G	XP_016864717.1:p.Leu2328=
NM_001999.4:c.7137T>G MANE Select	NP_001990.2:p.Leu2379=