Canonical Allele Identifier: CA2549071026

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128357200_128357201insGTT , CM000667.2:g.128357200_128357201insGTT	GRCh38
NC_000005.9:g.127692892_127692893insGTT , CM000667.1:g.127692892_127692893insGTT	GRCh37
NC_000005.8:g.127720791_127720792insGTT	NCBI36
NG_008750.1:g.185845_185846insCAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000262464.9:c.2674+77_2674+78insCAA MANE Select	ENSP00000262464.4:n.2674+77_2674+78insCAA
ENST00000262464.8:c.2674+77_2674+78insCAA	ENSP00000262464.4:n.2674+77_2674+78insCAA
ENST00000508053.5:c.2674+77_2674+78insCAA	ENSP00000424571.1:n.2674+77_2674+78insCAA
ENST00000508989.5:c.2575+77_2575+78insCAA	ENSP00000425596.1:n.2575+77_2575+78insCAA
ENST00000619499.4:c.2671+77_2671+78insCAA	ENSP00000482132.1:n.2671+77_2671+78insCAA
NM_001999.3:c.2674+77_2674+78insCAA	NP_001990.2:n.2674+77_2674+78insCAA
XM_017009228.2:c.2521+77_2521+78insCAA	XP_016864717.1:n.2521+77_2521+78insCAA
NM_001999.4:c.2674+77_2674+78insCAA MANE Select	NP_001990.2:n.2674+77_2674+78insCAA