Canonical Allele Identifier: CA446309457
Gene: FBN2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.127668638T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128332946T>C , CM000667.2:g.128332946T>C GRCh38
NC_000005.9:g.127668638T>C , CM000667.1:g.127668638T>C GRCh37
NC_000005.8:g.127696537T>C NCBI36
NG_008750.1:g.210098A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.972A>G
ENST00000703785.1:n.1053A>G
ENST00000262464.9:c.4188A>G MANE Select ENSP00000262464.4:p.Arg1396=
ENST00000262464.8:c.4188A>G ENSP00000262464.4:p.Arg1396=
ENST00000507835.5:c.738A>G ENSP00000426839.1:p.Arg246=
ENST00000508053.5:c.4188A>G ENSP00000424571.1:p.Arg1396=
ENST00000508989.5:c.4089A>G ENSP00000425596.1:p.Arg1363=
ENST00000619499.4:c.4185A>G ENSP00000482132.1:p.Arg1395=
NM_001999.3:c.4188A>G NP_001990.2:p.Arg1396=
XM_017009228.2:c.4035A>G XP_016864717.1:p.Arg1345=
NM_001999.4:c.4188A>G MANE Select NP_001990.2:p.Arg1396=