Canonical Allele Identifier: CA1581270885
Gene: FBN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128338337T= , CM000667.2:g.128338337T= GRCh38
NC_000005.9:g.127674029T= , CM000667.1:g.127674029T= GRCh37
NC_000005.8:g.127701928T= NCBI36
NG_008750.1:g.204707A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.257-215A=
ENST00000703785.1:n.338-215A=
ENST00000262464.9:c.3473-215A= MANE Select ENSP00000262464.4:n.3473-215A=
ENST00000262464.8:c.3473-215A= ENSP00000262464.4:n.3473-215A=
ENST00000507835.5:c.23-215A= ENSP00000426839.1:n.23-215A=
ENST00000508053.5:c.3473-215A= ENSP00000424571.1:n.3473-215A=
ENST00000508989.5:c.3374-215A= ENSP00000425596.1:n.3374-215A=
ENST00000619499.4:c.3470-215A= ENSP00000482132.1:n.3470-215A=
NM_001999.3:c.3473-215A= NP_001990.2:n.3473-215A=
XM_017009228.2:c.3320-215A= XP_016864717.1:n.3320-215A=
NM_001999.4:c.3473-215A= MANE Select NP_001990.2:n.3473-215A=