Canonical Allele Identifier: CA1581253690

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128301332_128301333delinsAT , CM000667.2:g.128301332_128301333delinsAT	GRCh38
NC_000005.9:g.127637024_127637025delinsAT , CM000667.1:g.127637024_127637025delinsAT	GRCh37
NC_000005.8:g.127664923_127664924delinsAT	NCBI36
NG_008750.1:g.241711_241712delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.2830+49_2830+50delinsAT
ENST00000703785.1:n.2749+49_2749+50delinsAT
ENST00000262464.9:c.6046+49_6046+50delinsAT MANE Select	ENSP00000262464.4:n.6046+49_6046+50delinsAT
ENST00000262464.8:c.6046+49_6046+50delinsAT	ENSP00000262464.4:n.6046+49_6046+50delinsAT
ENST00000508053.5:c.6046+49_6046+50delinsAT	ENSP00000424571.1:n.6046+49_6046+50delinsAT
ENST00000619499.4:c.6043+49_6043+50delinsAT	ENSP00000482132.1:n.6043+49_6043+50delinsAT
NM_001999.3:c.6046+49_6046+50delinsAT	NP_001990.2:n.6046+49_6046+50delinsAT
XM_017009228.2:c.5893+49_5893+50delinsAT	XP_016864717.1:n.5893+49_5893+50delinsAT
NM_001999.4:c.6046+49_6046+50delinsAT MANE Select	NP_001990.2:n.6046+49_6046+50delinsAT