Canonical Allele Identifier: CA1316747825
Gene: TMEFF2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.192049887_192049890delinsGCTA , CM000664.2:g.192049887_192049890delinsGCTA GRCh38
NC_000002.11:g.192914613_192914616delinsGCTA , CM000664.1:g.192914613_192914616delinsGCTA GRCh37
NC_000002.10:g.192622858_192622861delinsGCTA NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000272771.10:c.536+7789_536+7792delinsTAGC MANE Select ENSP00000272771.5:n.536+7789_536+7792delinsTAGC
ENST00000272771.9:c.536+7789_536+7792delinsTAGC ENSP00000272771.5:n.536+7789_536+7792delinsTAGC
ENST00000392314.5:c.536+7789_536+7792delinsTAGC ENSP00000376128.1:n.536+7789_536+7792delinsTAGC
NM_001305134.1:c.536+7789_536+7792delinsTAGC NP_001292063.1:n.536+7789_536+7792delinsTAGC
NM_016192.2:c.536+7789_536+7792delinsTAGC NP_057276.2:n.536+7789_536+7792delinsTAGC
NM_016192.3:c.536+7789_536+7792delinsTAGC NP_057276.2:n.536+7789_536+7792delinsTAGC
XM_005246437.2:c.536+7789_536+7792delinsTAGC XP_005246494.1:n.536+7789_536+7792delinsTAGC
XM_011510890.1:c.509+7789_509+7792delinsTAGC XP_011509192.1:n.509+7789_509+7792delinsTAGC
XR_923721.1:n.172-717_172-714delinsGCTA
XR_923722.1:n.172-717_172-714delinsGCTA
XM_011510890.3:c.509+7789_509+7792delinsTAGC XP_011509192.1:n.509+7789_509+7792delinsTAGC
XM_017003739.2:c.509+7789_509+7792delinsTAGC XP_016859228.1:n.509+7789_509+7792delinsTAGC
XM_017003740.2:c.536+7789_536+7792delinsTAGC XP_016859229.1:n.536+7789_536+7792delinsTAGC
XR_001739830.1:n.172-717_172-714delinsGCTA
NM_016192.4:c.536+7789_536+7792delinsTAGC MANE Select NP_057276.2:n.536+7789_536+7792delinsTAGC
NM_001305134.2:c.536+7789_536+7792delinsTAGC NP_001292063.1:n.536+7789_536+7792delinsTAGC