Canonical Allele Identifier: CA917578779

Gene: FBN2

Linked Data

• dbSNP Id: rs1581238525

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128357137_128357142del , CM000667.2:g.128357137_128357142del	GRCh38
NC_000005.9:g.127692829_127692834del , CM000667.1:g.127692829_127692834del	GRCh37
NC_000005.8:g.127720728_127720733del	NCBI36
NG_008750.1:g.185909_185914del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262464.9:c.2674+141_2674+146del MANE Select	ENSP00000262464.4:n.2674+141_2674+146del
ENST00000262464.8:c.2674+141_2674+146del	ENSP00000262464.4:n.2674+141_2674+146del
ENST00000508053.5:c.2674+141_2674+146del	ENSP00000424571.1:n.2674+141_2674+146del
ENST00000508989.5:c.2575+141_2575+146del	ENSP00000425596.1:n.2575+141_2575+146del
ENST00000619499.4:c.2671+141_2671+146del	ENSP00000482132.1:n.2671+141_2671+146del
NM_001999.3:c.2674+141_2674+146del	NP_001990.2:n.2674+141_2674+146del
XM_017009228.2:c.2521+141_2521+146del	XP_016864717.1:n.2521+141_2521+146del
NM_001999.4:c.2674+141_2674+146del MANE Select	NP_001990.2:n.2674+141_2674+146del