Canonical Allele Identifier: CA1581253300

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128300499_128300500delinsCA , CM000667.2:g.128300499_128300500delinsCA	GRCh38
NC_000005.9:g.127636191_127636192delinsCA , CM000667.1:g.127636191_127636192delinsCA	GRCh37
NC_000005.8:g.127664090_127664091delinsCA	NCBI36
NG_008750.1:g.242544_242545delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.2950+317_2950+318delinsTG
ENST00000703785.1:n.2869+317_2869+318delinsTG
ENST00000262464.9:c.6166+317_6166+318delinsTG MANE Select	ENSP00000262464.4:n.6166+317_6166+318delinsTG
ENST00000262464.8:c.6166+317_6166+318delinsTG	ENSP00000262464.4:n.6166+317_6166+318delinsTG
ENST00000508053.5:c.6166+317_6166+318delinsTG	ENSP00000424571.1:n.6166+317_6166+318delinsTG
ENST00000619499.4:c.6163+317_6163+318delinsTG	ENSP00000482132.1:n.6163+317_6163+318delinsTG
NM_001999.3:c.6166+317_6166+318delinsTG	NP_001990.2:n.6166+317_6166+318delinsTG
XM_017009228.2:c.6013+317_6013+318delinsTG	XP_016864717.1:n.6013+317_6013+318delinsTG
NM_001999.4:c.6166+317_6166+318delinsTG MANE Select	NP_001990.2:n.6166+317_6166+318delinsTG