Canonical Allele Identifier: CA1581253439

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128300789_128300790delinsTG , CM000667.2:g.128300789_128300790delinsTG	GRCh38
NC_000005.9:g.127636481_127636482delinsTG , CM000667.1:g.127636481_127636482delinsTG	GRCh37
NC_000005.8:g.127664380_127664381delinsTG	NCBI36
NG_008750.1:g.242254_242255delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.2950+27_2950+28delinsCA
ENST00000703785.1:n.2869+27_2869+28delinsCA
ENST00000262464.9:c.6166+27_6166+28delinsCA MANE Select	ENSP00000262464.4:n.6166+27_6166+28delinsCA
ENST00000262464.8:c.6166+27_6166+28delinsCA	ENSP00000262464.4:n.6166+27_6166+28delinsCA
ENST00000508053.5:c.6166+27_6166+28delinsCA	ENSP00000424571.1:n.6166+27_6166+28delinsCA
ENST00000619499.4:c.6163+27_6163+28delinsCA	ENSP00000482132.1:n.6163+27_6163+28delinsCA
NM_001999.3:c.6166+27_6166+28delinsCA	NP_001990.2:n.6166+27_6166+28delinsCA
XM_017009228.2:c.6013+27_6013+28delinsCA	XP_016864717.1:n.6013+27_6013+28delinsCA
NM_001999.4:c.6166+27_6166+28delinsCA MANE Select	NP_001990.2:n.6166+27_6166+28delinsCA