Canonical Allele Identifier: CA276667788
Gene: TELO2 HGNC NCBI

Linked Data

dbSNP Id: rs949974202
gnomAD v2: 16-1560339-C-T
gnomAD v3: 16-1510338-C-T
gnomAD v4: 16-1510338-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1510338C>T , CM000678.2:g.1510338C>T GRCh38
NC_000016.9:g.1560339C>T , CM000678.1:g.1560339C>T GRCh37
NC_000016.8:g.1500340C>T NCBI36
NG_032783.1:g.106771G>A
NG_050910.1:g.21995C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262319.11:c.*402C>T MANE Select ENSP00000262319.6:n.*402C>T
ENST00000262319.10:c.*402C>T ENSP00000262319.6:n.*402C>T
ENST00000568240.1:n.1208C>T
NM_016111.3:c.*402C>T NP_057195.2:n.*402C>T
XM_011522773.1:c.*402C>T XP_011521075.1:n.*402C>T
XM_011522774.1:c.*402C>T XP_011521076.1:n.*402C>T
XM_011522775.1:c.*402C>T XP_011521077.1:n.*402C>T
XM_011522776.1:c.*402C>T XP_011521078.1:n.*402C>T
XR_932982.1:n.3215C>T
NM_001351846.1:c.*402C>T NP_001338775.1:n.*402C>T
XM_011522773.3:c.*402C>T XP_011521075.1:n.*402C>T
XM_011522774.2:c.*402C>T XP_011521076.1:n.*402C>T
XM_011522775.3:c.*402C>T XP_011521077.1:n.*402C>T
XM_011522776.2:c.*402C>T XP_011521078.1:n.*402C>T
XR_001752042.2:n.3448C>T
XR_001752043.2:n.2963C>T
XR_001752044.2:n.2900C>T
XR_932982.3:n.2993C>T
NM_016111.4:c.*402C>T MANE Select NP_057195.2:n.*402C>T
NM_001351846.2:c.*402C>T NP_001338775.1:n.*402C>T