Canonical Allele Identifier: CA1581234734

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128261592_128261593delinsCT , CM000667.2:g.128261592_128261593delinsCT	GRCh38
NC_000005.9:g.127597284_127597285delinsCT , CM000667.1:g.127597284_127597285delinsCT	GRCh37
NC_000005.8:g.127625183_127625184delinsCT	NCBI36
NG_008750.1:g.281451_281452delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262464.9:c.8364+143_8364+144delinsAG MANE Select	ENSP00000262464.4:n.8364+143_8364+144delinsAG
ENST00000262464.8:c.8364+143_8364+144delinsAG	ENSP00000262464.4:n.8364+143_8364+144delinsAG
ENST00000508053.5:c.8364+143_8364+144delinsAG	ENSP00000424571.1:n.8364+143_8364+144delinsAG
ENST00000619499.4:c.8361+143_8361+144delinsAG	ENSP00000482132.1:n.8361+143_8361+144delinsAG
NM_001999.3:c.8364+143_8364+144delinsAG	NP_001990.2:n.8364+143_8364+144delinsAG
XM_017009228.2:c.8211+143_8211+144delinsAG	XP_016864717.1:n.8211+143_8211+144delinsAG
NM_001999.4:c.8364+143_8364+144delinsAG MANE Select	NP_001990.2:n.8364+143_8364+144delinsAG