Canonical Allele Identifier: CA1581269846
Gene: FBN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128336056_128336057delinsAT , CM000667.2:g.128336056_128336057delinsAT GRCh38
NC_000005.9:g.127671748_127671749delinsAT , CM000667.1:g.127671748_127671749delinsAT GRCh37
NC_000005.8:g.127699647_127699648delinsAT NCBI36
NG_008750.1:g.206987_206988delinsAT

Transcript Alleles

HGVS Amino-acid change
ENST00000703783.1:n.439_440delinsAT
ENST00000703785.1:n.520_521delinsAT
ENST00000262464.9:c.3655_3656delinsAT MANE Select ENSP00000262464.4:p.Met1219=
ENST00000262464.8:c.3655_3656delinsAT ENSP00000262464.4:p.Met1219=
ENST00000507835.5:c.205_206delinsAT ENSP00000426839.1:p.Met69=
ENST00000508053.5:c.3655_3656delinsAT ENSP00000424571.1:p.Met1219=
ENST00000508989.5:c.3556_3557delinsAT ENSP00000425596.1:p.Met1186=
ENST00000619499.4:c.3652_3653delinsAT ENSP00000482132.1:p.Met1218=
NM_001999.3:c.3655_3656delinsAT NP_001990.2:p.Met1219=
XM_017009228.2:c.3502_3503delinsAT XP_016864717.1:p.Met1168=
NM_001999.4:c.3655_3656delinsAT MANE Select NP_001990.2:p.Met1219=