Canonical Allele Identifier: CA1581253539
Gene: FBN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128301013T= , CM000667.2:g.128301013T= GRCh38
NC_000005.9:g.127636705T= , CM000667.1:g.127636705T= GRCh37
NC_000005.8:g.127664604T= NCBI36
NG_008750.1:g.242031A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.2831-77A=
ENST00000703785.1:n.2750-77A=
ENST00000262464.9:c.6047-77A= MANE Select ENSP00000262464.4:n.6047-77A=
ENST00000262464.8:c.6047-77A= ENSP00000262464.4:n.6047-77A=
ENST00000508053.5:c.6047-77A= ENSP00000424571.1:n.6047-77A=
ENST00000619499.4:c.6044-77A= ENSP00000482132.1:n.6044-77A=
NM_001999.3:c.6047-77A= NP_001990.2:n.6047-77A=
XM_017009228.2:c.5894-77A= XP_016864717.1:n.5894-77A=
NM_001999.4:c.6047-77A= MANE Select NP_001990.2:n.6047-77A=