Canonical Allele Identifier: CA3395109

Gene: FBN2

Linked Data

• ClinVar Variation Id: 458764
• ClinVar RCV Id: RCV000539964
• dbSNP Id: rs747182286
• ExAC: 5:127670966 T / C
• gnomAD v2: 5-127670966-T-C
• gnomAD v4: 5-128335274-T-C
• MyVariant Identifiers: chr5:g.127670966T>C (hg19) ; chr5:g.128335274T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335274T>C , CM000667.2:g.128335274T>C	GRCh38
NC_000005.9:g.127670966T>C , CM000667.1:g.127670966T>C	GRCh37
NC_000005.8:g.127698865T>C	NCBI36
NG_008750.1:g.207770A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.653A>G
ENST00000703785.1:n.734A>G
ENST00000262464.9:c.3869A>G MANE Select	ENSP00000262464.4:p.Asn1290Ser
ENST00000262464.8:c.3869A>G	ENSP00000262464.4:p.Asn1290Ser
ENST00000507835.5:c.419A>G	ENSP00000426839.1:p.Asn140Ser
ENST00000508053.5:c.3869A>G	ENSP00000424571.1:p.Asn1290Ser
ENST00000508989.5:c.3770A>G	ENSP00000425596.1:p.Asn1257Ser
ENST00000619499.4:c.3866A>G	ENSP00000482132.1:p.Asn1289Ser
NM_001999.3:c.3869A>G	NP_001990.2:p.Asn1290Ser
XM_017009228.2:c.3716A>G	XP_016864717.1:p.Asn1239Ser
NM_001999.4:c.3869A>G MANE Select	NP_001990.2:p.Asn1290Ser