Canonical Allele Identifier: CA1581270855
Gene: FBN2 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128338280C= , CM000667.2:g.128338280C= GRCh38
NC_000005.9:g.127673972C= , CM000667.1:g.127673972C= GRCh37
NC_000005.8:g.127701871C= NCBI36
NG_008750.1:g.204764G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.257-158G=
ENST00000703785.1:n.338-158G=
ENST00000262464.9:c.3473-158G= MANE Select ENSP00000262464.4:n.3473-158G=
ENST00000262464.8:c.3473-158G= ENSP00000262464.4:n.3473-158G=
ENST00000507835.5:c.23-158G= ENSP00000426839.1:n.23-158G=
ENST00000508053.5:c.3473-158G= ENSP00000424571.1:n.3473-158G=
ENST00000508989.5:c.3374-158G= ENSP00000425596.1:n.3374-158G=
ENST00000619499.4:c.3470-158G= ENSP00000482132.1:n.3470-158G=
NM_001999.3:c.3473-158G= NP_001990.2:n.3473-158G=
XM_017009228.2:c.3320-158G= XP_016864717.1:n.3320-158G=
NM_001999.4:c.3473-158G= MANE Select NP_001990.2:n.3473-158G=
Search 100 bp 5'
Search 100 bp 3'