Canonical Allele Identifier: CA1581255301
Gene: FBN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128304793_128304794delinsCA , CM000667.2:g.128304793_128304794delinsCA GRCh38
NC_000005.9:g.127640485_127640486delinsCA , CM000667.1:g.127640485_127640486delinsCA GRCh37
NC_000005.8:g.127668384_127668385delinsCA NCBI36
NG_008750.1:g.238250_238251delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.2584+163_2584+164delinsTG
ENST00000703785.1:n.2503+163_2503+164delinsTG
ENST00000262464.9:c.5800+163_5800+164delinsTG MANE Select ENSP00000262464.4:n.5800+163_5800+164delinsTG
ENST00000262464.8:c.5800+163_5800+164delinsTG ENSP00000262464.4:n.5800+163_5800+164delinsTG
ENST00000508053.5:c.5800+163_5800+164delinsTG ENSP00000424571.1:n.5800+163_5800+164delinsTG
ENST00000619499.4:c.5797+163_5797+164delinsTG ENSP00000482132.1:n.5797+163_5797+164delinsTG
NM_001999.3:c.5800+163_5800+164delinsTG NP_001990.2:n.5800+163_5800+164delinsTG
XM_017009228.2:c.5647+163_5647+164delinsTG XP_016864717.1:n.5647+163_5647+164delinsTG
NM_001999.4:c.5800+163_5800+164delinsTG MANE Select NP_001990.2:n.5800+163_5800+164delinsTG