Canonical Allele Identifier: CA320061
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 213315
ClinVar RCV Id: RCV000469601
dbSNP Id: rs863223569

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128336042G>A , CM000667.2:g.128336042G>A GRCh38
NC_000005.9:g.127671734G>A , CM000667.1:g.127671734G>A GRCh37
NC_000005.8:g.127699633G>A NCBI36
NG_008750.1:g.207002C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000262464.9:c.3670C>T MANE Select ENSP00000262464.4:p.Gln1224Ter
ENST00000262464.8:c.3670C>T ENSP00000262464.4:p.Gln1224Ter
ENST00000507835.5:c.220C>T ENSP00000426839.1:p.Gln74Ter
ENST00000508053.5:c.3670C>T ENSP00000424571.1:p.Gln1224Ter
ENST00000508989.5:c.3571C>T ENSP00000425596.1:p.Gln1191Ter
ENST00000619499.4:n.3667C>T ENSP00000482132.1:p.Gln1223Ter
NM_001999.3:c.3670C>T NP_001990.2:p.Gln1224Ter
XM_017009228.2:c.3517C>T XP_016864717.1:p.Gln1173Ter
NM_001999.4:c.3670C>T MANE Select NP_001990.2:p.Gln1224Ter