Canonical Allele Identifier: CA3395501

Gene: FBN2

Linked Data

• ClinVar Variation Id: 286775
• ClinVar RCV Id: RCV000270719 ; RCV001483216
• dbSNP Id: rs376507178
• ExAC: 5:127693093 A / G
• gnomAD v2: 5-127693093-A-G
• gnomAD v3: 5-128357401-A-G
• gnomAD v4: 5-128357401-A-G
• MyVariant Identifiers: chr5:g.127693093A>G (hg19) ; chr5:g.128357401A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128357401A>G , CM000667.2:g.128357401A>G	GRCh38
NC_000005.9:g.127693093A>G , CM000667.1:g.127693093A>G	GRCh37
NC_000005.8:g.127720992A>G	NCBI36
NG_008750.1:g.185643T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262464.9:c.2555-6T>C MANE Select	ENSP00000262464.4:n.2555-6T>C
ENST00000262464.8:c.2555-6T>C	ENSP00000262464.4:n.2555-6T>C
ENST00000508053.5:c.2555-6T>C	ENSP00000424571.1:n.2555-6T>C
ENST00000508989.5:c.2456-6T>C	ENSP00000425596.1:n.2456-6T>C
ENST00000619499.4:c.2552-6T>C	ENSP00000482132.1:n.2552-6T>C
NM_001999.3:c.2555-6T>C	NP_001990.2:n.2555-6T>C
XM_017009228.2:c.2402-6T>C	XP_016864717.1:n.2402-6T>C
NM_001999.4:c.2555-6T>C MANE Select	NP_001990.2:n.2555-6T>C