Canonical Allele Identifier: CA446306063
Gene: FBN2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.127730816A>C (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128395123A>C , CM000667.2:g.128395123A>C GRCh38
NC_000005.9:g.127730816A>C , CM000667.1:g.127730816A>C GRCh37
NC_000005.8:g.127758715A>C NCBI36
NG_008750.1:g.147920T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000703787.1:n.937T>G
ENST00000262464.9:c.1230T>G MANE Select ENSP00000262464.4:p.Ser410=
ENST00000262464.8:c.1230T>G ENSP00000262464.4:p.Ser410=
ENST00000508053.5:c.1230T>G ENSP00000424571.1:p.Ser410=
ENST00000508989.5:c.1131T>G ENSP00000425596.1:p.Ser377=
ENST00000619499.4:c.1227T>G ENSP00000482132.1:p.Ser409=
NM_001999.3:c.1230T>G NP_001990.2:p.Ser410=
XM_017009228.2:c.1079-1755T>G XP_016864717.1:n.1079-1755T>G
NM_001999.4:c.1230T>G MANE Select NP_001990.2:p.Ser410=
Search 100 bp 5'
Search 100 bp 3'