Canonical Allele Identifier: CA281519
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 18402
ClinVar RCV Id: RCV000000557
dbSNP Id: rs267606802

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128335525A>T , CM000667.2:g.128335525A>T GRCh38
NC_000005.9:g.127671217A>T , CM000667.1:g.127671217A>T GRCh37
NC_000005.8:g.127699116A>T NCBI36
NG_008750.1:g.207519T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.561T>A
ENST00000703785.1:n.642T>A
ENST00000262464.9:c.3777T>A MANE Select ENSP00000262464.4:p.Asn1259Lys
ENST00000262464.8:c.3777T>A ENSP00000262464.4:p.Asn1259Lys
ENST00000507835.5:c.327T>A ENSP00000426839.1:p.Asn109Lys
ENST00000508053.5:c.3777T>A ENSP00000424571.1:p.Asn1259Lys
ENST00000508989.5:c.3678T>A ENSP00000425596.1:p.Asn1226Lys
ENST00000619499.4:c.3774T>A ENSP00000482132.1:p.Asn1258Lys
NM_001999.3:c.3777T>A NP_001990.2:p.Asn1259Lys
XM_017009228.2:c.3624T>A XP_016864717.1:p.Asn1208Lys
NM_001999.4:c.3777T>A MANE Select NP_001990.2:p.Asn1259Lys