Canonical Allele Identifier: CA1581261135

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128317358_128317384delinsGGAAAACACAGACTTGGAGTTTGTGTA , CM000667.2:g.128317358_128317384delinsGGAAAACACAGACTTGGAGTTTGTGTA	GRCh38
NC_000005.9:g.127653050_127653076delinsGGAAAACACAGACTTGGAGTTTGTGTA , CM000667.1:g.127653050_127653076delinsGGAAAACACAGACTTGGAGTTTGTGTA	GRCh37
NC_000005.8:g.127680949_127680975delinsGGAAAACACAGACTTGGAGTTTGTGTA	NCBI36
NG_008750.1:g.225660_225686delinsTACACAAACTCCAAGTCTGTGTTTTCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.1501+765_1501+791delinsTACACAAACTCCAAGTCTGTGTTTTCC
ENST00000703785.1:n.1582+765_1582+791delinsTACACAAACTCCAAGTCTGTGTTTTCC
ENST00000262464.9:c.4717+765_4717+791delinsTACACAAACTCCAAGTCTGTGTTTTCC MANE Select	ENSP00000262464.4:n.4717+765_4717+791delinsTACACAAACTCCAAGTCT...
ENST00000262464.8:c.4717+765_4717+791delinsTACACAAACTCCAAGTCTGTGTTTTCC	ENSP00000262464.4:n.4717+765_4717+791delinsTACACAAACTCCAAGTCT...
ENST00000508053.5:c.4717+765_4717+791delinsTACACAAACTCCAAGTCTGTGTTTTCC	ENSP00000424571.1:n.4717+765_4717+791delinsTACACAAACTCCAAGTCT...
ENST00000619499.4:c.4714+765_4714+791delinsTACACAAACTCCAAGTCTGTGTTTTCC	ENSP00000482132.1:n.4714+765_4714+791delinsTACACAAACTCCAAGTCT...
NM_001999.3:c.4717+765_4717+791delinsTACACAAACTCCAAGTCTGTGTTTTCC	NP_001990.2:n.4717+765_4717+791delinsTACACAAACTCCAAGTCTGTGTTT...
XM_017009228.2:c.4564+765_4564+791delinsTACACAAACTCCAAGTCTGTGTTTTCC	XP_016864717.1:n.4564+765_4564+791delinsTACACAAACTCCAAGTCTGTG...
NM_001999.4:c.4717+765_4717+791delinsTACACAAACTCCAAGTCTGTGTTTTCC MANE Select	NP_001990.2:n.4717+765_4717+791delinsTACACAAACTCCAAGTCTGTGTTT...