Canonical Allele Identifier: CA1581234761

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128261662_128261664delinsCGA , CM000667.2:g.128261662_128261664delinsCGA	GRCh38
NC_000005.9:g.127597354_127597356delinsCGA , CM000667.1:g.127597354_127597356delinsCGA	GRCh37
NC_000005.8:g.127625253_127625255delinsCGA	NCBI36
NG_008750.1:g.281380_281382delinsTCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262464.9:c.8364+72_8364+74delinsTCG MANE Select	ENSP00000262464.4:n.8364+72_8364+74delinsTCG
ENST00000262464.8:c.8364+72_8364+74delinsTCG	ENSP00000262464.4:n.8364+72_8364+74delinsTCG
ENST00000508053.5:c.8364+72_8364+74delinsTCG	ENSP00000424571.1:n.8364+72_8364+74delinsTCG
ENST00000619499.4:c.8361+72_8361+74delinsTCG	ENSP00000482132.1:n.8361+72_8361+74delinsTCG
NM_001999.3:c.8364+72_8364+74delinsTCG	NP_001990.2:n.8364+72_8364+74delinsTCG
XM_017009228.2:c.8211+72_8211+74delinsTCG	XP_016864717.1:n.8211+72_8211+74delinsTCG
NM_001999.4:c.8364+72_8364+74delinsTCG MANE Select	NP_001990.2:n.8364+72_8364+74delinsTCG