Canonical Allele Identifier: CA10587611
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 264121
dbSNP Id: rs775987665

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128335259T>C , CM000667.2:g.128335259T>C GRCh38
NC_000005.9:g.127670951T>C , CM000667.1:g.127670951T>C GRCh37
NC_000005.8:g.127698850T>C NCBI36
NG_008750.1:g.207785A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.668A>G
ENST00000703785.1:n.749A>G
ENST00000262464.9:c.3884A>G MANE Select ENSP00000262464.4:p.Asp1295Gly
ENST00000262464.8:c.3884A>G ENSP00000262464.4:p.Asp1295Gly
ENST00000507835.5:c.434A>G ENSP00000426839.1:p.Asp145Gly
ENST00000508053.5:c.3884A>G ENSP00000424571.1:p.Asp1295Gly
ENST00000508989.5:c.3785A>G ENSP00000425596.1:p.Asp1262Gly
ENST00000619499.4:c.3881A>G ENSP00000482132.1:p.Asp1294Gly
NM_001999.3:c.3884A>G NP_001990.2:p.Asp1295Gly
XM_017009228.2:c.3731A>G XP_016864717.1:p.Asp1244Gly
NM_001999.4:c.3884A>G MANE Select NP_001990.2:p.Asp1295Gly