Canonical Allele Identifier: CA645546436

Gene: FBN2

Linked Data

• COSMIC: COSM228066 ; COSM228067

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335547_128335548delinsTT , CM000667.2:g.128335547_128335548delinsTT	GRCh38
NC_000005.9:g.127671239_127671240delinsTT , CM000667.1:g.127671239_127671240delinsTT	GRCh37
NC_000005.8:g.127699138_127699139delinsTT	NCBI36
NG_008750.1:g.207496_207497delinsAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.538_539delinsAA
ENST00000703785.1:n.619_620delinsAA
ENST00000262464.9:c.3754_3755delinsAA MANE Select	ENSP00000262464.4:p.Gly1252Asn
ENST00000262464.8:c.3754_3755delinsAA	ENSP00000262464.4:p.Gly1252Asn
ENST00000507835.5:c.304_305delinsAA	ENSP00000426839.1:p.Gly102Asn
ENST00000508053.5:c.3754_3755delinsAA	ENSP00000424571.1:p.Gly1252Asn
ENST00000508989.5:c.3655_3656delinsAA	ENSP00000425596.1:p.Gly1219Asn
ENST00000619499.4:c.3751_3752delinsAA	ENSP00000482132.1:p.Gly1251Asn
NM_001999.3:c.3754_3755delinsAA	NP_001990.2:p.Gly1252Asn
XM_017009228.2:c.3601_3602delinsAA	XP_016864717.1:p.Gly1201Asn
NM_001999.4:c.3754_3755delinsAA MANE Select	NP_001990.2:p.Gly1252Asn