Canonical Allele Identifier: CA1581268338
Gene: FBN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128332831G= , CM000667.2:g.128332831G= GRCh38
NC_000005.9:g.127668523G= , CM000667.1:g.127668523G= GRCh37
NC_000005.8:g.127696422G= NCBI36
NG_008750.1:g.210213C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.1006+81C=
ENST00000703785.1:n.1087+81C=
ENST00000262464.9:c.4222+81C= MANE Select ENSP00000262464.4:n.4222+81C=
ENST00000262464.8:c.4222+81C= ENSP00000262464.4:n.4222+81C=
ENST00000507835.5:c.772+81C= ENSP00000426839.1:n.772+81C=
ENST00000508053.5:c.4222+81C= ENSP00000424571.1:n.4222+81C=
ENST00000508989.5:c.4123+81C= ENSP00000425596.1:n.4123+81C=
ENST00000619499.4:c.4219+81C= ENSP00000482132.1:n.4219+81C=
NM_001999.3:c.4222+81C= NP_001990.2:n.4222+81C=
XM_017009228.2:c.4069+81C= XP_016864717.1:n.4069+81C=
NM_001999.4:c.4222+81C= MANE Select NP_001990.2:n.4222+81C=