Canonical Allele Identifier: CA281518
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 527
ClinVar RCV Id: RCV000000556
dbSNP Id: rs28931602

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128335543A>C , CM000667.2:g.128335543A>C GRCh38
NC_000005.9:g.127671235A>C , CM000667.1:g.127671235A>C GRCh37
NC_000005.8:g.127699134A>C NCBI36
NG_008750.1:g.207501T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000262464.9:c.3759T>G MANE Select ENSP00000262464.4:p.Cys1253Trp
ENST00000262464.8:c.3759T>G ENSP00000262464.4:p.Cys1253Trp
ENST00000507835.5:c.309T>G ENSP00000426839.1:p.Cys103Trp
ENST00000508053.5:c.3759T>G ENSP00000424571.1:p.Cys1253Trp
ENST00000508989.5:c.3660T>G ENSP00000425596.1:p.Cys1220Trp
ENST00000619499.4:n.3756T>G ENSP00000482132.1:p.Cys1252Trp
NM_001999.3:c.3759T>G NP_001990.2:p.Cys1253Trp
XM_017009228.2:c.3606T>G XP_016864717.1:p.Cys1202Trp
NM_001999.4:c.3759T>G MANE Select NP_001990.2:p.Cys1253Trp