Canonical Allele Identifier: CA3395174

Gene: FBN2

Linked Data

• ClinVar Variation Id: 350778
• ClinVar RCV Id: RCV000401946 ; RCV002278584 ; RCV001705517 ; RCV002450925
• dbSNP Id: rs201288931
• ExAC: 5:127671749 T / C
• gnomAD v2: 5-127671749-T-C
• gnomAD v3: 5-128336057-T-C
• gnomAD v4: 5-128336057-T-C
• COSMIC: COSM1619390 ; COSM1619391
• MyVariant Identifiers: chr5:g.127671749T>C (hg19) ; chr5:g.128336057T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128336057T>C , CM000667.2:g.128336057T>C	GRCh38
NC_000005.9:g.127671749T>C , CM000667.1:g.127671749T>C	GRCh37
NC_000005.8:g.127699648T>C	NCBI36
NG_008750.1:g.206987A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.439A>G
ENST00000703785.1:n.520A>G
ENST00000262464.9:c.3655A>G MANE Select	ENSP00000262464.4:p.Met1219Val
ENST00000262464.8:c.3655A>G	ENSP00000262464.4:p.Met1219Val
ENST00000507835.5:c.205A>G	ENSP00000426839.1:p.Met69Val
ENST00000508053.5:c.3655A>G	ENSP00000424571.1:p.Met1219Val
ENST00000508989.5:c.3556A>G	ENSP00000425596.1:p.Met1186Val
ENST00000619499.4:c.3652A>G	ENSP00000482132.1:p.Met1218Val
NM_001999.3:c.3655A>G	NP_001990.2:p.Met1219Val
XM_017009228.2:c.3502A>G	XP_016864717.1:p.Met1168Val
NM_001999.4:c.3655A>G MANE Select	NP_001990.2:p.Met1219Val