Canonical Allele Identifier: CA1581253684

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128301325_128301328delinsTATC , CM000667.2:g.128301325_128301328delinsTATC	GRCh38
NC_000005.9:g.127637017_127637020delinsTATC , CM000667.1:g.127637017_127637020delinsTATC	GRCh37
NC_000005.8:g.127664916_127664919delinsTATC	NCBI36
NG_008750.1:g.241716_241719delinsGATA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.2830+54_2830+57delinsGATA
ENST00000703785.1:n.2749+54_2749+57delinsGATA
ENST00000262464.9:c.6046+54_6046+57delinsGATA MANE Select	ENSP00000262464.4:n.6046+54_6046+57delinsGATA
ENST00000262464.8:c.6046+54_6046+57delinsGATA	ENSP00000262464.4:n.6046+54_6046+57delinsGATA
ENST00000508053.5:c.6046+54_6046+57delinsGATA	ENSP00000424571.1:n.6046+54_6046+57delinsGATA
ENST00000619499.4:c.6043+54_6043+57delinsGATA	ENSP00000482132.1:n.6043+54_6043+57delinsGATA
NM_001999.3:c.6046+54_6046+57delinsGATA	NP_001990.2:n.6046+54_6046+57delinsGATA
XM_017009228.2:c.5893+54_5893+57delinsGATA	XP_016864717.1:n.5893+54_5893+57delinsGATA
NM_001999.4:c.6046+54_6046+57delinsGATA MANE Select	NP_001990.2:n.6046+54_6046+57delinsGATA