Canonical Allele Identifier: CA394217443
Gene: TELO2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1505508G>T , CM000678.2:g.1505508G>T GRCh38
NC_000016.9:g.1555509G>T , CM000678.1:g.1555509G>T GRCh37
NC_000016.8:g.1495510G>T NCBI36
NG_050910.1:g.17165G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262319.11:c.1941G>T MANE Select ENSP00000262319.6:p.Glu647Asp
ENST00000262319.10:c.1941G>T ENSP00000262319.6:p.Glu647Asp
ENST00000497339.6:c.1228-765G>T ENSP00000456383.1:n.1228-765G>T
ENST00000563676.1:n.68G>T
ENST00000564507.5:n.536G>T
ENST00000567423.1:c.361G>T
ENST00000567427.1:n.140G>T
ENST00000569744.1:n.370G>T
NM_016111.3:c.1941G>T NP_057195.2:p.Glu647Asp
XM_006720993.2:c.1941G>T XP_006721056.1:p.Glu647Asp
XM_011522773.1:c.1941G>T XP_011521075.1:p.Glu647Asp
XM_011522774.1:c.1941G>T XP_011521076.1:p.Glu647Asp
XM_011522775.1:c.1941G>T XP_011521077.1:p.Glu647Asp
XM_011522776.1:c.1941G>T XP_011521078.1:p.Glu647Asp
XM_011522777.1:c.1941G>T XP_011521079.1:p.Glu647Asp
XM_011522778.1:c.1941G>T XP_011521080.1:p.Glu647Asp
XR_932982.1:n.2227G>T
XR_932983.1:n.2147G>T
NM_001351846.1:c.1941G>T NP_001338775.1:p.Glu647Asp
XM_011522773.3:c.1941G>T XP_011521075.1:p.Glu647Asp
XM_011522774.2:c.1941G>T XP_011521076.1:p.Glu647Asp
XM_011522775.3:c.1941G>T XP_011521077.1:p.Glu647Asp
XM_011522776.2:c.1941G>T XP_011521078.1:p.Glu647Asp
XM_011522777.3:c.1941G>T XP_011521079.1:p.Glu647Asp
XM_011522778.3:c.1941G>T XP_011521080.1:p.Glu647Asp
XR_001752042.2:n.2005G>T
XR_001752043.2:n.1988G>T
XR_001752044.2:n.1925G>T
XR_932982.3:n.2005G>T
NM_016111.4:c.1941G>T MANE Select NP_057195.2:p.Glu647Asp
NM_001351846.2:c.1941G>T NP_001338775.1:p.Glu647Asp