Canonical Allele Identifier: CA2631000248
Gene: TELO2 HGNC NCBI

Linked Data

gnomAD v4: 16-1505606-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1505606G>C , CM000678.2:g.1505606G>C GRCh38
NC_000016.9:g.1555607G>C , CM000678.1:g.1555607G>C GRCh37
NC_000016.8:g.1495608G>C NCBI36
NG_050910.1:g.17263G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000262319.11:c.2034+5G>C MANE Select ENSP00000262319.6:n.2034+5G>C
ENST00000262319.10:c.2034+5G>C ENSP00000262319.6:n.2034+5G>C
ENST00000497339.6:c.1228-667G>C ENSP00000456383.1:n.1228-667G>C
ENST00000563676.1:n.161+5G>C
ENST00000564507.5:n.629+5G>C
ENST00000567423.1:c.454+5G>C
ENST00000567427.1:n.233+5G>C
ENST00000569744.1:n.463+5G>C
NM_016111.3:c.2034+5G>C NP_057195.2:n.2034+5G>C
XM_006720993.2:c.2034+5G>C XP_006721056.1:n.2034+5G>C
XM_011522773.1:c.2034+5G>C XP_011521075.1:n.2034+5G>C
XM_011522774.1:c.2034+5G>C XP_011521076.1:n.2034+5G>C
XM_011522775.1:c.2034+5G>C XP_011521077.1:n.2034+5G>C
XM_011522776.1:c.2034+5G>C XP_011521078.1:n.2034+5G>C
XM_011522777.1:c.2034+5G>C XP_011521079.1:n.2034+5G>C
XM_011522778.1:c.2034+5G>C XP_011521080.1:n.2034+5G>C
XR_932982.1:n.2320+5G>C
NM_001351846.1:c.2034+5G>C NP_001338775.1:n.2034+5G>C
XM_011522773.3:c.2034+5G>C XP_011521075.1:n.2034+5G>C
XM_011522774.2:c.2034+5G>C XP_011521076.1:n.2034+5G>C
XM_011522775.3:c.2034+5G>C XP_011521077.1:n.2034+5G>C
XM_011522776.2:c.2034+5G>C XP_011521078.1:n.2034+5G>C
XM_011522777.3:c.2034+5G>C XP_011521079.1:n.2034+5G>C
XM_011522778.3:c.2034+5G>C XP_011521080.1:n.2034+5G>C
XR_001752042.2:n.2098+5G>C
XR_001752043.2:n.2081+5G>C
XR_001752044.2:n.2018+5G>C
XR_932982.3:n.2098+5G>C
NM_016111.4:c.2034+5G>C MANE Select NP_057195.2:n.2034+5G>C
NM_001351846.2:c.2034+5G>C NP_001338775.1:n.2034+5G>C