Canonical Allele Identifier: CA1581282299

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128357417_128357419delinsTTC , CM000667.2:g.128357417_128357419delinsTTC	GRCh38
NC_000005.9:g.127693109_127693111delinsTTC , CM000667.1:g.127693109_127693111delinsTTC	GRCh37
NC_000005.8:g.127721008_127721010delinsTTC	NCBI36
NG_008750.1:g.185625_185627delinsGAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000262464.9:c.2555-24_2555-22delinsGAA MANE Select	ENSP00000262464.4:n.2555-24_2555-22delinsGAA
ENST00000262464.8:c.2555-24_2555-22delinsGAA	ENSP00000262464.4:n.2555-24_2555-22delinsGAA
ENST00000508053.5:c.2555-24_2555-22delinsGAA	ENSP00000424571.1:n.2555-24_2555-22delinsGAA
ENST00000508989.5:c.2456-24_2456-22delinsGAA	ENSP00000425596.1:n.2456-24_2456-22delinsGAA
ENST00000619499.4:c.2552-24_2552-22delinsGAA	ENSP00000482132.1:n.2552-24_2552-22delinsGAA
NM_001999.3:c.2555-24_2555-22delinsGAA	NP_001990.2:n.2555-24_2555-22delinsGAA
XM_017009228.2:c.2402-24_2402-22delinsGAA	XP_016864717.1:n.2402-24_2402-22delinsGAA
NM_001999.4:c.2555-24_2555-22delinsGAA MANE Select	NP_001990.2:n.2555-24_2555-22delinsGAA